共查询到20条相似文献，搜索用时 846 毫秒
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Megan?S. Kane Mariska Davids Christopher Adams Lynne?A. Wolfe Helen?W. Cheung Andrea Gropman Yan Huang NISC Comparative Sequencing Program Bobby?G. Ng Hudson?H. Freeze David?R. Adams William?A. Gahl Cornelius?F. Boerkoel 《American journal of human genetics》2016,98(2):339-346
Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosidase) mutations (GenBank: NM_006302.2; c.[65C>A; 329G>A] p.[Ala22Glu; Arg110His]; c.[370C>T] p.[Gln124∗]), we noted that their survival was much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age. Upon mutation analysis, we detected multiple MOGS genotypes including wild-type alleles in their cultured fibroblast and peripheral blood DNA. Further analysis of DNA from cultured fibroblasts of six individuals with compound heterozygous mutations of PMM2 (PMM2-CDG), MPI (MPI-CDG), ALG3 (ALG3-CDG), ALG12 (ALG12-CDG), DPAGT1 (DPAGT1-CDG), and ALG1 (ALG1-CDG) also identified multiple genotypes including wild-type alleles for each. Droplet digital PCR showed a ratio of nearly 1:1 wild-type to mutant alleles for most, but not all, mutations. This suggests that mitotic recombination contributes to the survival and the variable expressivity of individuals with compound heterozygous CDGs. This also provides an explanation for prior observations of a reduced frequency of homozygous mutations and might contribute to increased levels of residual enzyme activity in cultured fibroblasts of individuals with MPI- and PMM2-CDGs. 相似文献
3.
Zhan-fang Sun Yu-han Zhang Ji-feng Guo Qi-ying Sun Jun-pu Mei Han-lin Zhou Li-ping Guan Jin-yong Tian Zheng-mao Hu Jia-da Li Kun Xia Xin-xiang Yan Bei-sha Tang 《PloS one》2014,9(9)
Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. However, it is often misdiagnosed with the wide spectrum of phenotypes. By exome sequencing, we make a rapid genetic diagnosis for two atypical dopa-responsive dystonia pedigrees. One pedigree, presented with prominent parkinsonism, was misdiagnosed as Parkinson''s disease until a known mutation in GCH1 (GTP cyclohydrolase 1) gene (NM_000161.2: c.631_632delAT, p.Met211ValfsX38) was found. The other pedigree was detected with a new compound heterozygous mutation in TH (tyrosine hydroxylase) gene [(NM_000360.3: c.911C>T, p.Ala304Val) and (NM_000360.3: c.1358G>A, p.Arg453His)], whose proband, a pregnant woman, required a rapid and less-biased genetic diagnosis. In conclusion, we demonstrated that exome sequencing could provide a precise and rapid genetic testing in the diagnosis of Mendelian diseases, especially for diseases with wide phenotypes. 相似文献
4.
Muhammad Arshad Rafiq Andreas W. Kuss Lucia Puettmann Abdul Noor Annapoorani Ramiah Ghazanfar Ali Hao Hu Nadir Ali Kerio Yong Xiang Masoud Garshasbi Muzammil Ahmad Khan Gisele E. Ishak Rosanna Weksberg Reinhard Ullmann Andreas Tzschach Kimia Kahrizi Khalid Mahmood Farooq Naeem Muhammad Ayub Kelley W. Moremen John B. Vincent Hans Hilger Ropers Muhammad Ansar Hossein Najmabadi 《American journal of human genetics》2011,89(1):176-182
We have used genome-wide genotyping to identify an overlapping homozygosity-by-descent locus on chromosome 9q34.3 (MRT15) in four consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability (NS-ARID) and one in which the patients show additional clinical features. Four of the families are from Pakistan, and one is from Iran. Using a combination of next-generation sequencing and Sanger sequencing, we have identified mutations in the gene MAN1B1, encoding a mannosyl oligosaccharide, alpha 1,2-mannosidase. In one Pakistani family, MR43, a homozygous nonsense mutation (RefSeq number NM_016219.3: c.1418G>A [p.Trp473∗]), segregated with intellectual disability and additional dysmorphic features. We also identified the missense mutation c. 1189G>A (p.Glu397Lys; RefSeq number NM_016219.3), which segregates with NS-ARID in three families who come from the same village and probably have shared inheritance. In the Iranian family, the missense mutation c.1000C>T (p.Arg334Cys; RefSeq number NM_016219.3) also segregates with NS-ARID. Both missense mutations are at amino acid residues that are conserved across the animal kingdom, and they either reduce kcat by ∼1300-fold or disrupt stable protein expression in mammalian cells. MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency in patients with NS-ARID from different populations. 相似文献
5.
6.
Peter Johansen Jeppe Dyrberg Andersen Linnea N?rg?rd Madsen Henrik Ullum Martin Glud Claus B?rsting Robert Gniadecki Niels Morling 《PloS one》2016,11(3)
To investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition, we compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. We typed 32 pigmentary SNP markers and sequenced MC1R in 246 healthy individuals and 116 individuals attending periodic control for malignant melanoma development, 50 of which were diagnosed with FAMMM. It was observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (p<0.001) lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. We did not observe any significant association of the MC1R variants with constitutive pigmentation measured on the buttock area. We hypothesize that the effect of MC1R variants on arm pigmentation is primarily reflecting the inability to tan when subjected to UVR. A gender specific effect on skin pigmentation was also observed, and it was found that the skin pigmentation of females on average were darker than that of males (p<0.01). We conclude that MC1R variants are associated with quantitative skin colour in a lightly pigmented Danish population. We did not observe any association between any pigmentary marker and the FAMMM syndrome. We suggest that the genetics of FAMMM is not related to the genetics of the pigmentary pathway. 相似文献
7.
Craig F. Munns Somayyeh Fahiminiya Nabin Poudel Maria Cristina Munteanu Jacek Majewski David O. Sillence Jordan P. Metcalf Andrew Biggin Francis Glorieux François Fassier Frank Rauch Myron E. Hinsdale 《American journal of human genetics》2015,96(6):971-978
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either xylosyltransferase I or II. Three individuals from two families were found that exhibited similar phenotypes. The index case subjects were two brothers, individuals 1 and 2, who presented with osteoporosis, cataracts, sensorineural hearing loss, and mild learning defects. Whole exome sequence analyses showed that both individuals had a homozygous c.692dup mutation (GenBank: NM_022167.3) in the xylosyltransferase II locus (XYLT2) (MIM: 608125), causing reduced XYLT2 mRNA and low circulating xylosyltransferase (XylT) activity. In an unrelated boy (individual 3) from the second family, we noted low serum XylT activity. Sanger sequencing of XYLT2 in this individual revealed a c.520del mutation in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs∗35). Fibroblasts from individuals 1 and 2 showed a range of defects including reduced XylT activity, GAG incorporation of 35SO4, and heparan sulfate proteoglycan assembly. These studies demonstrate that human XylT2 deficiency results in vertebral compression fractures, sensorineural hearing loss, eye defects, and heart defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown cause. This phenotype is different from what has been reported in individuals with other linker enzyme deficiencies. These studies illustrate that the cells of the lens, retina, heart muscle, inner ear, and bone are dependent on XylT2 for proteoglycan assembly in humans. 相似文献
8.
Abjal Pasha Shaik Abbas H Alsaeed S Kiranmayee VK Bammidi Asma Sultana 《Bioinformation》2013,9(1):29-36
Cubilin, (CUBN; also known as intrinsic factor-cobalamin receptor [Homo sapiens Entrez Pubmed ref NM_001081.3; NG_008967.1;
GI: 119606627]), located in the epithelium of intestine and kidney acts as a receptor for intrinsic factor – vitamin B12 complexes.
Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. The current study investigated the possible role
of CUBN in evolution using phylogenetic testing. A total of 588 BLAST hits were found for the cubilin query sequence and these
hits showed putative conserved domain, CUB superfamily (as on 27th Nov 2012). A first-pass phylogenetic tree was constructed to
identify the taxa which most often contained the CUBN sequences. Following this, we narrowed down the search by manually
deleting sequences which were not CUBN. A repeat phylogenetic analysis of 25 taxa was performed using PhyML, RAxML and
TreeDyn softwares to confirm that CUBN is a conserved protein emphasizing its importance as an extracellular domain and being
present in proteins mostly known to be involved in development in many chordate taxa but not found in prokaryotes, plants and
yeast.. No horizontal gene transfers have been found between different taxa. 相似文献
9.
Saima Siddiqi Jia Nee Foo Anthony Vu Saad Azim David L. Silver Atika Mansoor Stacey Kiat Hong Tay Sumiya Abbasi Asraf Hussain Hashmi Jamal Janjua Sumbal Khalid E. Shyong Tai Gene W. Yeo Chiea Chuen Khor 《PloS one》2014,9(12)
The diagnosis of childhood neurological disorders remains challenging given the overlapping clinical presentation across subgroups and heterogeneous presentation within subgroups. To determine the underlying genetic cause of a severe neurological disorder in a large consanguineous Pakistani family presenting with severe scoliosis, anarthria and progressive neuromuscular degeneration, we performed genome-wide homozygosity mapping accompanied by whole-exome sequencing in two affected first cousins and their unaffected parents to find the causative mutation. We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family. Homozygous loss-of-function mutations in ALS2 are known to cause juvenile-onset amyotrophic lateral sclerosis (ALS), one of the many neurological conditions having overlapping symptoms with many neurological phenotypes. RT-PCR validation revealed that the mutation resulted in exon-skipping as well as the use of an alternative donor splice, both of which are predicted to cause loss-of-function of the resulting proteins. By examining 216 known neurological disease genes in our exome sequencing data, we also identified 9 other rare nonsynonymous mutations in these genes, some of which lie in highly conserved regions. Sequencing of a single proband might have led to mis-identification of some of these as the causative variant. Our findings established a firm diagnosis of juvenile ALS in this family, thus demonstrating the use of whole exome sequencing combined with linkage analysis in families as a powerful tool for establishing a quick and precise genetic diagnosis of complex neurological phenotypes. 相似文献
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11.
Javier?A. Couto Matthew?P. Vivero Harry?P.W. Kozakewich Amir?H. Taghinia John?B. Mulliken Matthew?L. Warman Arin?K. Greene 《American journal of human genetics》2015,96(3):480-486
Verrucous venous malformation (VVM), also called “verrucous hemangioma,” is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations affecting the same gene in specimens from multiple persons. We observed mosaicism for a missense mutation (NM_002401.3, c.1323C>G; NP_002392, p.Iso441Met) in mitogen-activated protein kinase kinase kinase 3 (MAP3K3) in three of six individuals. We confirmed the presence of this mutation via droplet digital PCR (ddPCR) in the three subjects and found the mutation in three additional specimens from another four participants. Mutant allele frequencies ranged from 6% to 19% in affected tissue. We did not observe this mutant allele in unaffected tissue or in affected tissue from individuals with other types of vascular anomalies. Studies using global and conditional Map3k3 knockout mice have previously implicated MAP3K3 in vascular development. MAP3K3 dysfunction probably causes VVM in humans. 相似文献
12.
The purpose of this table is to provide the community with a citable record of publications of ongoing genome sequencing projects that have led to a publication in the scientific literature. While our goal is to make the list complete, there is no guarantee that we may have omitted one or more publications appearing in this time frame. Readers and authors who wish to have publications added to subsequent versions of this list are invited to provide the bibliographic data for such references to the SIGS editorial office.
Phylum Crenarchaeota
Phylum Deinococcus-Thermus
Phylum Proteobacteria
- “Achromobacter arsenitoxydans” SY8, sequence accession AGUF00000000 [3]
- Acidovorax sp. Strain NO1, sequence accession AGTS00000000 [4]
- Acinetobacter baumannii AB4857, sequence accession AHAG00000000 [5]
- Acinetobacter baumannii AB5075, sequence accession AHAH00000000 [5]
- Acinetobacter baumannii AB5256, sequence accession AHAI00000000 [5]
- Acinetobacter baumannii AB5711, sequence accession AHAJ00000000 [5]
- Aeromonas salmonicida, sequence accession AGVO00000000 [6]
- Aggregatibacter actinomycetemcomitans RHAA1, sequence accession AHGR00000000 [7]
- Agrobacterium tumefaciens 5A, sequence accession AGVZ00000000 [8]
- Azoarcus sp. Strain KH32C, sequence accession AP012304, AP012305 [9]
- Burkholderia sp. Strain YI23, sequence accession CP003087 (Chromosome 1), CP003088 (Chromosome 2), CP003089 (Chromosome 3), CP003090 (plasmid BYI23_D), CP003091 (plasmid BYI23_E) CP003092 (plasmid BYI23_F) [10]
- Brucella suis VBI22, sequence accession CP003128, CP003129 [11]
- Comamonas testosteroni ATCC 11996, sequence accession AHIL00000000 [12]
- “Commensalibacter intestini” A911T, sequence accession AGFR00000000 [13]
- Edwardsiella ictaluri, sequence accession CP001600.1 [14]
- Enterobacter cloacae subsp. dissolvens SDM, sequence accession AGSY00000000 [15]
- “Gluconobacter morbifer” G707T, sequence accession AGQV00000000 [16]
- Legionella dumoffii TEX-KL, sequence accession AGVT00000000 [17]
- Legionella dumoffii NY-23, sequence accession AGVU00000000 [17]
- Legionella pneumophila serogroup 12 Strain 570-CO-H, sequence accession CP003192 [18]
- Marinobacterium stanieri S30, sequence accession AFPL00000000 [19]
- “Marinobacter manganoxydans” MnI7-9, sequence accession CP001978 to CP001980 [20]
- Mesorhizobium alhagi CCNWXJ12-2T, sequence accession AHAM00000000 [21]
- Mesorhizobium amorphae, sequence accession AGSN00000000 [22]
- Methylomicrobium alcaliphilum 20Z, sequence accession FO082060 and FO082061 [23]
- Mitsuaria sp. Strain H24L5A, sequence accession CAFG01000001 to CAFG01000607 [24]
- Novosphingobium pentaromativorans US6-1, sequence accession AGFM00000000 [25]
- Pantoea ananatis B1-9, sequence accession CAEI01000001 to CAEI01000169 [26]
- Pantoea ananatis LMG 5342, sequence accession HE617160 (chromosome), HE617161 (pPANA10) [27]
- Pantoea ananatis Strain PA13, sequence accession CP003085 and CP003086 [28]
- Pseudomonas aeruginosa, sequence accession AFXI00000000 [29]
- Pseudomonas aeruginosa, sequence accession AFXJ00000000 [29]
- Pseudomonas aeruginosa, sequence accession AFXK00000000 [29]
- Pseudomonas chlororaphis GP72, sequence accession AHAY01000000 [30]
- Pseudomonas fluorescens F113, sequence accession CP003150 [31]
- Pseudomonas fluorescens Wayne 1R, sequence accession CADX01000001 to CADX01000090 [32]
- Pseudomonas fluorescens Wood1R, sequence accession CAFF01000001 to CAFF01001437 [32]
- Pseudomonas psychrotolerans L19, sequence accession AHBD00000000 [33]
- Pseudoalteromonas rubra ATCC 29570T, sequence accession AHCD00000000 [34]
- Pseudomonas stutzeri SDM-LAC, sequence accession AGSX00000000 [35]
- Pseudoxanthomonas spadix BD-a59, sequence accession CP003093 [36]
- Rickettsia slovaca, sequence accession CP002428 [37]
- Salmonella enterica serovar Pullorum RKS5078, sequence accession CP003047 [38]
- Sinorhizobium meliloti CCNWSX0020, sequence accession AGVV00000000 [39]
- Sphingobium sp. Strain SYK-6, sequence accession AP012222 and AP012223 [40]
- Sphingomonas sp. Strain PAMC 26605, sequence accession AHIS00000000 [41]
- Stenotrophomonas maltophilia RR-10, sequence accession AGRB00000000 [42]
- Strain HIMB30, sequence accession AGIG00000000 [43]
- Taylorella equigenitalis, sequence accession CP003059 [44]
- Vibrio campbellii DS40M4, sequence accession AGIE00000000 [45]
- Vibrio fischeri SR5, sequence accession AHIH00000000 [46]
- Yersinia enterocolitica, sequence accession AGQO00000000 [47]
Phylum Tenericutes
- Candidatus Mycoplasma haemominutum, sequence accession HE613254 [48]
- Mycoplasma haemocanis strain Illinois, sequence accession CP003199 [49]
- Mycoplasma iowae, sequence accession AGFP00000000 [50]
- Mycoplasma pneumoniae Type 2a Strain 309, sequence accession AP012303 [51]
Phylum Firmicutes
- Bacillus cereus F837/76, sequence accession CP003187 (chromosome) CP003188 (pF837_55kb), CP003189 (pF837_10kb) [52]
- Brevibacillus laterosporus Strain GI-9, sequence accession CAGD01000001 to CAGD01000061 [53]
- Clostridium sporogenes PA 3679, sequence accession AGAH00000000 [54]
- Enterococcus mundtii CRL1656, sequence accession AFWZ00000000.1 [55]
- Geobacillus thermoleovorans CCB_US3_UF5, sequence accession CP003125 [56]
- Lactobacillus curvatus Strain CRL705, sequence accession AGBU01000000 [57]
- Lactobacillus rhamnosus ATCC 8530, sequence accession CP003094 [58]
- Lactobacillus rhamnosus R0011, sequence accession AGKC00000000 [59]
- Lactococcus garvieae TB25, sequence accession AGQX01000000 [60]
- Lactococcus garvieae LG9, sequence accession AGQY01000000 [60]
- Lactococcus lactis subsp. cremoris A76, sequence accession CP003132 (chromosome), CP003136 (pQA505), CP003135 (PQA518), CP003134 (pQA549), CP003133 (pQA554) [61]
- Leuconostoc citreum LBAE C10, sequence accession CAGE00000000 [62]
- Leuconostoc citreum LBAE C11, sequence accession CAGF00000000 [62]
- Leuconostoc citreum LBAE E16, sequence accession CAGG00000000 [62]
- Leuconostoc mesenteroides subsp. mesenteroides Strain J18, sequence accession CP003101 [63]
- Paenibacillus peoriae Strain KCTC 3763T, sequence accession AGFX00000000 [64]
- Pediococcus acidilactici MA18/5M, sequence accession AGKB00000000 [65]
- Pediococcus claussenii ATCC BAA-344T, sequence accession CP003137 (chromosome), CP003138 (pPECL-1), CP003139 (pPECL-2), CP003140 (pPECL-3), CP003141 (pPECL-4), CP003142 (pPECL-5), CP003143 (pPECL-6), CP003144 (pPECL-7), CP003145 (pPECL-8) [66]
- Staphylococcus aureus M013, sequence accession CP003166 [67]
- Staphylococcus aureus subsp. aureus TW20, sequence accession FN433596 [68]
- Weissella confusa LBAE C39-2, sequence accession CAGH00000000 [69]
Phylum Actinobacteria
- Corynebacterium casei, sequence accession CAFW01000001 to CAFW01000106 [70]
- Corynebacterium glutamicum, sequence accession AGQQ00000000 [71]
- Leucobacter chromiiresistens, sequence accession AGCW00000000 [72]
- Mycobacterium abscessus, sequence accession AGQU00000000 [73]
- Propionibacterium acnes ST9, sequence accession CP003195 [74]
- Propionibacterium acnes ST22, sequence accession CP003196 [74]
- Propionibacterium acnes ST27, sequence accession CP003197 [74]
- Saccharomonospora azurea SZMC 14600, sequence accession AHBX00000000 [75]
- Streptomyces sp. Strain TOR3209, sequence accession AGNH00000000 [76]
- Streptomyces sp. Strain W007, sequence accession AGSW00000000 [77]
Phylum Spirochaetes
- Borrelia valaisiana VS116, sequence accession ABCY02000001 (chromosome), CP001439 (plasmid Ip17), CP001437 (Ip25), CP001440 (plasmid Ip 28-3), CP001442 (plasmid Ip28-8), CP001436 (Ip 36), CP001433 (plasmid Ip 54), CP001438 (plasmid cp9), CP001432 (plasmid cp26), CP001441 (plasmid cp32-5), CP001434 (plasmid cp32-7), CP001435 (plasmid cp32-10) [78]
- “Borrelia bissettii” DN127, sequence accession CP002746 (chromosome), CP002756 (plasmid Ip12), CP002757 (plasmid Ip25), CP002758 (plasmid 28-3), CP002759 (plasmid Ip 28-4), CP002760 (Ip28-7), CP002761 (plasmid Ip54), CP002762 (plasmid Ip56), CP002755 (plasmid cp9), CP002747 (plasmid cp26), CP002749 (plasmid cp32-3), CP002750 (plasmid cp32-4), CP002751 (plasmid 32-5), CP002752 (plasmid cp32-6), CP002753 (plasmid cp32-7), CP0027554 (plasmid cp32-9), CP002748 (plasmid cp32-11) [78]
- Borrelia spielmanii A14S, sequence accession ABKB02000001 (chromosome), CP001468 (plasmid Ip17), CP001471 (Ip28-3), CP001470 (plasmid Ip28-4), CP001465 (plasmid Ip28-2), CP001466 (plasmid Ip36), CP001464 (plasmid Ip38), CP001469 (plasmid Ip54), ABKB02000016, ABKB02000020 (plasmid cp9), CP001467 (plasmid cp26), ABKB02000026 (plasmid cp32-3), ABKB02000031 (plasmid 32-5), ABKB02000021 (plasmid cp32-12), ABKB02000014 (unidentified) [78]
Non-Bacterial genomes
- Aspergillus flavus, sequence accession GSE32177 [79]
- Bacteriophage SPN3UB, sequence accession JQ288021 [80]
- Bamboo mitochondria, sequence accession JQ235166 to JQ235179 [81]
- Boea hygrometrica chloroplast, sequence accession JN107811 [82]
- Boea hygrometrica mitochondrial, sequence accession JN107812 [82]
- Canine Picornavirus, sequence accession JN831356 [83]
- Chandipura virus (CHPV) CIN0327, sequence accession GU212856.1 [84]
- Chandipura virus (CHPV) CIN0451, sequence accession GU212857.1 [84]
- Chandipura virus (CHPV) CIN0751, sequence accession GU212858.1 [84]
- Chandipura virus (CHPV) CIN0755, sequence accession GU190711.1 [84]
- Chinese Porcine Parvovirus Strain PPV2010, sequence accession JN872448 [85]
- Common midwife toad megavirus, sequence accession JQ231222 [86]
- Dengue Virus Serotype 4, sequence accession JN983813 [87]
- Duck Tembusu Virus, sequence accession JF270480 [88]
- Duck Tembusu Virus, sequence accession JQ314464 [88]
- Duck Tembusu Virus, sequence accession JQ314465 [88]
- Emiliania huxleyi Virus 202, sequence accession HQ634145 [89]
- Emiliania huxleyi Virus EhV-88, sequence accession JF974310 [89]
- Emiliania huxleyi EhV-201, sequence accession JF974311 [89]
- Emiliania huxleyi EhV-207, sequence accession JF974317 [89]
- Emiliania huxleyi EhV-208, sequence accession JF974318 [89]
- Glarea lozoyensis, sequence accession GUE00000000 [90]
- Nannochloropis gaditana, sequence accession AGNI00000000 [91]
- Oryza sativa cv., sequence accession DRA000499 [92]
- Partetravirus, sequence accession JN990269 [93]
- Porcine Bocavirus PBoV5, sequence accession JN831651 [94]
- Porcine epidemic diarrhea virus, sequence accession JQ282909 [95]
- Pseudomonas aeruginosa lytic bacteriophage PA1Ø, sequence accession HM624080 [96]
- Pseudomonas fluorescens phage OBP, sequence accesssion JN627160 [97]
- RNA Virus from Avocado, sequence accession JN880414 [98]
- Salmonella enterica Serovar Typhimurium Bacteriophage SPN1S, sequence accession JN391180 [99]
- Schistosoma haematobium, sequence accession PRJNA78265 [100]
- Schistosoma mansoni, sequence accession ERP00038 [101]
- Stenopirates sp., sequence accession JN100019 [102]
- T7-Like Virus, sequence accession JN651747 [103]
- Vibrio harveyi siphophage VHS1, sequence accession JF713456 [104]
- Tyrolean ice man, sequence accession ERP001144 [105]
13.
The purpose of this table is to provide the community with a citable record of publications of ongoing genome sequencing projects that have led to a publication in the scientific literature. While our goal is to make the list complete, there is no guarantee that we may have omitted one or more publications appearing in this time frame. Readers and authors who wish to have publications added to subsequent versions of this list are invited to provide the bibliographic data for such references to the SIGS editorial office.
Phylum Euryarchaeota
- Halococcus hamelinensis, sequence accession PRJNA80845 [1]
- “Methanocella conradii” HZ254, sequence accession CP003243 [2]
- Thermococcus litoralis NS-C, sequence accession AHVB00000000 [3]
Phylum Crenarchaeota
- Candidatus Nitrosopumilus salaria” BD31, sequence accession AEXL00000000 [4]
- Candidatus Nitrosoarchaeum limnia, sequence accession AHJG00000000 [5]
Phylum Deinococcus-Thermus
Phylum Proteobacteria
- Aggregatibacter actinomycetemcomitans strain ANH9381, sequence accession CP003099 [7]
- Alishewanella jeotgali, sequence accession AHTH00000000 [8]
- Enterobacter aerogenes KCTC 2190, sequence accession CP002824 [9]
- Escherichia coli O104:H4, sequence accession AFOB02000092 [10]
- Helicobacter pylori strains 17874, sequence accession PRJNA76569 [11]
- Helicobacter pylori strains P79, sequence accession PRJNA76567 [11]
- Janthinobacterium sp. Strain PAMC 25724, sequence accession AHHB00000000 [12]
- Klebsiella oxytoca KCTC 1686, sequence accession CP003218 [13]
- Klebsiella pneumoniae subsp. pneumoniae HS11286, sequence accession CP003200 (chromosome), CP003223 (plasmid pKPHS1), CP003224 (plasmid pKPHS2), CP003225 (plasmid pKPHS3), CP003226 (plasmid pKPHS4), CP003227 (plasmid pKPHS5), CP003228 (plasmid pKPHS6) [14]
- Oceanimonas sp. GK1, sequence accession CP003171 [15]
- “Pseudogulbenkiania ferrooxidans” Strain 2002, sequence accession NZ_ACIS01000000 [16]
- Pseudomonas extremaustralis 14-3b, sequence accession AHIP00000000 [17]
- Pseudomonas sp. Strain PAMC 25886, sequence accession AHHC00000000 [18]
- Psychrobacter, sequence accession AHVZ00000000 [19]
- Rahnella sp. Strain Y9602, sequence accession CP002505 [20]
- Rhizobium sp. Strain PDO1-076, sequence accession AHZC00000000 [21]
- Rhodospirillum photometricum DSM122, sequence accession HE663493 [22]
- “Rickettsia sibirica sibirica”, sequence accession AHIZ00000000 [23]
- Rickettsia sibirica subsp. mongolitimonae strain HA-91, sequence accession AHZB00000000 [24]
- Salmonella enterica subsp. enterica Serotype Enteritidis Strain LA5, sequence accession [25]
- Salmonella enterica subsp. enterica Serotype Senftenberg Strain SS209, sequence accession CAGQ00000000 [26]
- Salmonella enterica subsp. enterica Serovar Typhi P-stx-12, sequence accession CP003278 (chromosome) and CP003279 (plasmid) [27]
- Sphingomonas echinoides ATCC 14820, sequence accession AHIR00000000 [28]
- Strain HIMB55, sequence accession AGIF00000000 [29]
- Vibrio harveyi CAIM 1792, sequence accession AHHQ00000000 [30]
- Wolbachia Strain wAlbB, sequence accession CAGB01000001 to CAGB01000165 [31]
- Xanthomonas axonopodis pv. punicae Strain LMG 859, sequence accession CAGJ01000001 to CAGJ01000217 [32]
Phylum Tenericutes
Phylum Firmicutes
- Bacillus subtilis, sequence accession BGSCID 3A27 through BGSCID 28A4 [34]
- Clostridium difficile Strain CD37, sequence accession AHJJ00000000 [35]
- Clostridium perfringens, sequence accession AFES00000000 [36]
- Lactobacillus fructivorans KCTC 3543, sequence accession AEQY00000000 [37]
- Lactococcus lactis IO-1, sequence accession AP012281 [38]
- Lactobacillus plantarum strain NC8, sequence accession AGRI00000000 [39]
- Paenibacillus dendritiformis C454, sequence accession AHKH00000000 [40]
- Paenibacillus sp. Strain Aloe-11, sequence accession AGFI00000000 [41]
- “Peptoniphilus rhinitidis” 1-13T, sequence accession BAEW01000001 to BAEW01000056 [42]
- Streptococcus macedonicus ACA-DC 198, sequence accession HE613569 and HE613570 [43]
- Staphylococcus aureus VC40, sequence accession CP003033 [44]
- Streptococcus infantarius subsp. infantarius Strain CJ18, sequence accession CP003295 (chromosome), CP003296 (plasmid) [45]
- Streptococcus macedonicus ACA-DC 198, sequence accession HE613569 (chromosome), HE613570 (plasmid pSMA198) [46]
Phylum Actinobacteria
- Actinoplanes sp. SE50/110, sequence accession CP003170 [47]
- Amycolatopsis sp. Strain ATCC 39116, sequence accession [48]
- Nocardia cyriacigeorgica GUH-2, sequence accession FO082843 [49]
- Salinibacterium sp., sequence accession AHWA00000000 [50]
- Streptomyces acidiscabies 84-104, sequence accession AHBF00000000 [51]
Non-Bacterial genomes
- Bluetongue Virus Serotype 2, sequence accession AJ783905 (Seg-6) and JQ681257 (Seg-1), JQ681257 (Seg-1), JQ681258 (Seg-2), JQ681259 (Seg-3), JQ681260 (Seg-4), JQ681261 (Seg-5), JQ681262 (Seg-7), JQ6812563 (Seg-8), JQ6812564 (Seg-9), to JQ681265 (Seg-10) [52]
- Virus Serotype 1, sequence accession AJ585111 (Seg-2), AJ586659 (Seg-6), JQ282770 (Seg-1), JQ282771 (Seg-3), JQ282772 (Seg-4), JQ282773 (Seg-5), JQ282774 (Seg-7), JQ282775 (Seg-8), JQ282776 (Seg-9), and JQ282777 (Seg-10) [52]
- Chloroplast genome of Erycina pusilla, sequence accession JF_746994 [53]
- Danio rerio, sequence accession JQ434101 [54]
- Enterococcal Bacteriophage SAP6, sequence accession JF731128 [55]
- Eubenangee virus, sequence accession JQ070376 through JQ070385 [56]
- Fujian/411-like viruses, sequence accession CY087969 to CY088568 [57]
- Hantavirus Variant of Rio Mamoré Virus, Maripa Virus, sequence accession JQ611712 (segment S), JQ611713 (segment M), and JQ611714 (segment L) [58]
- Pata virus, sequence accession JQ070386 through JQ070395 [59]
- Porcine Circovirus 2, sequence accession JQ413808 [60]
- Porcine Reproductive and Respiratory Syndrome Virus, sequence accession JQ326271 [61]
- Streptococcus mutans Phage M102AD, sequence accession DQ386162 [62]
- Tilligery virus, sequence accession JQ070366 through JQ070375 [63]
14.
The purpose of this table is to provide the community with a citable record of publications of ongoing genome sequencing projects that have led to a publication in the scientific literature. While our goal is to make the list complete, there is no guarantee that we may have omitted one or more publications appearing in this time frame. Readers and authors who wish to have publications added to this subsequent versions of this list are invited to provide the bibliometric data for such references to the SIGS editorial office.
- Phylum Crenarchaeota
- Phylum Euryarchaeota
- Pyrococcus yayanosii CH1, sequence accession CP002779 [1]
- Methanocella paludicola, sequence accession AP011532 [2]
- Halorhabdus tiamatea, sequence accession AFNT00000000 [3]
- Thermococcus sp. Strain 4557, sequence accession CP002920 [4]
- Phylum Chloroflexi
- Phylum Proteobacteria
- Ralstonia solanacearum strain Po82, sequence accession CP002819 (chromosome) and CP002820 (megaplasmid) [5
- Desulfovibrio alaskensis G20, sequence accession CP000112 [6]
- Methylophaga aminisulfidivorans MPT, sequence accession AFIG00000000 [7]
- Acinetobacter sp. P8-3-8, sequence accession AFIE00000000 [8]
- Sphingomonas strain KC8, sequence accession AFMP01000000 [9]
- Brucella pinnipedialis B2/94, sequence accession CP002078 and CP002079 [10]
- Salmonella enterica Serovar Typhimurium UK-1, sequence accession CP002614 (chromosome), CP002615 (plasmid) [11]
- Bordetella pertussis CS, sequence accession CP002695 [12]
- Alteromonas sp. Strain SN2, sequence accession CP002339 [13]
- Escherichia coli O104:H4, sequence accession AFOB00000000 (LB226692) and AFPS00000000 (01-09591) [14]
- Acidithiobacillus caldus, sequence accession CP002573 (Chromosome), CP002574 (pLAtcm), CP002575 (pLAtc1), CP002576 (pLAtc2), CP002577 (pLAtc3) [15]
- Cupriavidus necator N-1, sequence accession CP002877 (chromosome 1), CP002878 (chromosome 2), CP002879 (pBB1), and CP002880 (pBB2) [16]
- Oligotropha carboxidovorans OM4, sequence accession CP002821 (OM4 chromosome), CP002822 (pHCG3b), CP002823 (pOC167B) [17]
- Oligotropha carboxidovorans OM5, sequence accession CP002826 (OM5 chromosome), CP002827 (pHCG3), and CP002828 (pOC167) [17]
- Pantoea ananatis LMG20103, sequence accession CP001875 [18]
- Helicobacter bizzozeronii strain CIII-1, sequence accession FR871757 (chromosome) and FR871758 (HBZ-1) [19]
- Vibrio anguillarum 775, sequence accession CP002284 to CP002285 [20]
- Zymomonas mobilis subsp. pomaceae, sequence accession CP002865 (chromosome), CP002866 (p29192_1), CP002867 (p29192_2) [21]
- Agrobacterium sp. strain ATCC 31749, sequence accession AECL01000000 [22]
- Xanthomonas spp. strain Xrc, sequence accesssion CP002789 [23]
- Xanthomonas spp. strain Xoc, sequence accesssion AAQN00000000 [23]
- Glaciecola sp. Strain 4H-3-7+YE-5, sequence accession CP002526 (chromosome) and CP002527 (plasmid) [24]
- Escherichia coli Strain HM605, sequence accession CADZ01000001 through CADZ01000154 [25]
- Salinisphaera shabanensis, sequence accession AFNV00000000 [26]
- Methyloversatilis universalis FAM5T, sequence accession AFHG00000000 [27]
- Alicycliphilus denitrificans Strain BC, sequence accession CP002449 (chromosome), CP002450 (megaplasmid), CP002451 (plasmid) [28].
- Alicycliphilus denitrificans K601T, sequence accession CP002657 (chromosome) and CP002658 (plasmid) [28]
- Oligotropha carboxidovorans Strain OM4, sequence accession CP002821 (chromosome), CP002822 (pHCG3b), CP002823 (pOC167B) [29]
- Oligotropha carboxidovorans Strain OM5, sequence accession CP002826 (chromosome), CP002827 (pHCG3), and CP002828 (pOC167) [29]
- Bradyrhizobiaceae strain SG-6C, sequence accession AFOF01000000 [30]
- Hyphomicrobium sp. Strain MC1, sequence accession FQ859181 [31]
- Shewanella sp. Strain HN-41, sequence accession AFOZ01000000 [32]
- Myxococcus fulvus HW-1, sequence accession CP002830 [33]
- Nitrosomonas sp. Strain AL212, sequence accession NC_015222 (chromosome), NC_015223 pNAL21201), NC_015221 (pNAL21202) [34]
- Ruegeria sp. Strain KLH11, sequence accession ACCW00000000 [35]
- Acidovorax avenae subsp. avenae RS-1, sequence accession AFPT01000000 [36]
- Escherichia coli (ExPEC), sequence accession AFAT00000000 [37]
- Vibrio mimicus SX-4, sequence accession ADOO01000000 [38]
- Agrobacterium tumefaciens Strain F2, sequence accession AFSD00000000 [39]
- Pasteurella multocida subsp. gallicida AFRR01000001 to AFRR01000489 [40]
- Pseudomonas aeruginosa 138244, sequence accession AEVV00000000 [41]
- Pseudomonas aeruginosa 152504, sequence accession AEVW00000000 [41]
- Campylobacter jejuni strain 305, sequence accession ADHL00000000 [42]
- Campylobacter jejuni strain DFVF1099, sequence accession ADHK00000000 [42]
- Xanthomonas campestris pv. raphani strain 756C, sequence accession CP002789 [43]
- Xanthomonas campestris pv. raphani strain BLS256, sequence accession AAQN01000001 [43]
- Rickettsia heilongjiangensis, sequence accession CP002912 [44]
- Acidiphilium sp. Strain PM (DSM 24941), sequence accession AFPR00000000 [45]
- Pseudomonas putida Strain S16, sequence accession CP002870 [46]
- Acinetobacter lwoffii, sequence accession AFQY01000000 [47]
- Phylum Firmicutes
- Caldalkalibacillus thermarum strain TA2.A1, sequence accession AFCE00000000 [48]
- Listeria monocytogenes Scott A, sequence accession AFGI00000000 [49]
- Lactococcus garvieae 8831, sequence accession AFCD00000000 [50]
- Natranaerobius thermophilus JW/NM-WN-LF, sequence accession CP001034 (chromosome), CP001035 (plasmid) [51]
- Melissococcus plutonius ATCC 35311, sequence accession AP012200 (chromosome) and AP012201 (plasmid) [52]
- Lactobacillus buchneri NRRL B-30929, sequence accession CP002652 (chromosome), CP002653 (plasmid pLBU01), CP002654 (plasmid pLBU02), and CP002655 (plasmid pLBU03) [53]
- Lactobacillus kefiranofaciens ZW3 , sequence accession CP002764 (chromosome), CP002765 (plasmid), and CP002766 (plasmid) [54]
- Bacillus megaterium strain QM B1551, sequence accession CP001983 (chromosome), CP001984 to CP001990 (plasmids pBM100 through pBM700) [55]
- Bacillus megaterium strain DSM319, sequence accession CP001982 (chromosome) [55]
- Listeria monocytogenes serovar 4a strain M7, sequence accession CP002816 [56]
- Bacillus coagulans 2-6, sequence accession CP002472 [57]
- Streptococcus salivarius strain CCHSS3, sequence accession FR873481 [58]
- Paenibacillus elgii B69, sequence accession AFHW01000000 [59]
- Lactobacillus pentosus MP-10, sequence accession FR871759 through FR871848 [60]
- Leuconostoc pseudomesenteroides KCTC 3652, sequence accession AEOQ00000001 through AEOQ00001160 [61]
- Lactobacillus mali KCTC 3596, sequence accession BACP01000001 through BACP01000122 [62]
- Paenibacillus polymyxa Type Strain ATCC 842T, sequence accession AFOX01000000 [63]
- Streptococcus salivarius strain JIM8777, sequence accssion FR873482 [64]
- Lactobacillus cypricasei KCTC 13900, sequence accession BACS01000001 to BACS01000487 [65]
- Lactobacillus zeae KCTC 3804, sequence accession BACQ01000001 to BACQ101000113 [66]
- Listeria monocytogenes Serovar 4a Strain M7, sequence accession CP002816 [67]
- Lactobacillus salivarius GJ-24, sequence accession AFOI00000000 [68]
- Lactobacillus johnsonii PF01, sequence accession AFQJ01000000 [69]
- Clostridium acetobutylicum DSM 1731, sequence accession CP002660 through CP002662 [70]
- Lactobacillus suebicus KCTC 3549, sequence accession BACO01000000 [71]
- Brevibacillus laterosporus LMG 15441, sequence accession AFRV00000000 [72]
- Lactobacillus salivarius NIAS840, sequence accession AFMN00000000 [73]
- Bifidobacterium animalis subsp. lactis CNCM I-2494, sequence accession CP002915 [74]
- Megasphaera elsdenii, sequence accession HE576794 [75]
- Lactobacillus versmoldensis KCTC 3814, sequence accession BACR01000001 to BACR01000102 [76]
- Lactobacillus pentosus IG1, sequence accession FR874848 to FR874860 [77]
- Alicyclobacillus acidocaldarius Strain Tc-4-1, sequence accession CP002902 [78]
- Streptococcus thermophilus Strain JIM8232, sequence accession FR875178 [79]
- Streptococcus equi subsp. zooepidemicus Strain ATCC 35246, sequence accession CP002904 [80]
- Bacillus amyloliquefaciens XH7, sequence accession CP002927 [81]
- Leuconostoc kimchii Strain C2, sequence accession CP002898 [82]
- Lactobacillus malefermentans KCTC 3548, sequence accession BACN01000001 to BACN01000172 [83]
- Weissella koreensis KACC 15510, sequence accession CP002900 [84]
- Phylum Tenericutes
- Mycoplasma bovis Strain Hubei-1, sequence accession CP002513 [85]
- Mycoplasma fermentans Strain M64, sequence accession NC_014921 [86]
- Haloplasma contractile, sequence accession AFNU00000000 [87]
- Mycoplasma ovipneumoniae Strain SC01, sequence accession AFHO01000000 [88]
- Phylum Actinobacteria
- Kocuria rhizophila P7-4, sequence accession AFID00000000 [89]
- Streptomyces S4, sequence accession CADY01000000 [90]
- Corynebacterium nuruki S6-4T, sequence accession AFIZ00000000 [91]
- Propionibacterium humerusii, sequence accession AFAM00000000.1 [92]
- Strain JDM601, sequence accession CP002329 [93]
- Streptomyces sp. strain Tü6071, sequence accession AFHJ01000000 [94]
- Bifidobacterium breve UCC2003, sequence accession CP000303 [95]
- Propionibacterium acnes, sequence accession CP002815 [96]
- Amycolicicoccus subflavus DQS3-9A1T, sequence accession CP002786 (chromosome), CP002787 (plasmid pAS9A-1), and CP002788 (plasmid pAS9A-2). [97]
- Gordonia neofelifaecis NRRL B-59395, sequence accession AEUD01000000 [98]
- Pseudonocardia dioxanivorans strain CB1190, sequence accession NC_015312-4 and CP002595-7 [99]
- Bifidobacterium longum subsp. longum KACC 91563, sequence accession CP002794 to CP002796 [100]
- Streptomyces cattleya NRRL 8057, sequence accession FQ859185 (chromosome) and FQ859184 (megaplasmid) [101]
- Rhodococcus sp. Strain R04, sequence accession AFAQ01000000 [102]
- Mycobacterium bovis BCG Moreau, sequence accession [103]
- Saccharopolyspora spinosa NRRL 18395, sequence accession [104]
- Mycobacterium tuberculosis CCDC5079, sequence accession [105]
- Mycobacterium tuberculosis CCDC5180, sequence accession [105]
- Amycolatopsis mediterranei S699, sequence accession CP002896 [106]
- Nesterenkonia sp. Strain F, sequence accession AFRW01000000 [107]
- Streptomyces xinghaiensis NRRL B24674T, sequence accession AFRP01000000 [108]
- Phylum Chlamydiae
- Chlamydophila abortus variant strain LLG, sequence accession AFHM01000000 [109]
- Chlamydia psittaci 6BC, sequence accession CP002586 (chromosome), CP002587 (plasmid) [110]
- Chlamydia psittaci Cal10, sequence accession AEZD00000000 (draft chromosome and plasmid) [110]
- Chlamydia trachomatis, sequence accession CP002024 [111]
- Phylum Spirochaetes
- Spirochaeta thermophila DSM 6192, sequence accession CP001698 [112]
- Brachyspira intermedia, sequence accession CP002874 (chromosome) and CP002875 (plasmid) [113]
- Phylum Fibrobacteres
- Phylum Bacteroidetes
- Porphyromonas gingivalis TDC60, sequence accession AP012203 [114]
- Krokinobacter sp. strain 4H-3-7-5, sequence accession CP002528 [115]
- Lacinutrix sp. strain 5H-3-7-4, sequence accession CP002825 [115]
- Bacterium HQM9, sequence accession AFPB00000000 [116]
- Anaerophaga sp. Strain HS1, sequence accession AFSL00000000 [117]
- Capnocytophaga canimorsus Strain 5, sequence accession CP002113 [118]
- Mesoflavibacter zeaxanthinifaciens strain S86, sequence accession AFOE00000000 [119]
- Phylum Verrucomicrobia
- Phylum Lentisphaerae
- Phylum Thermotogae
- Kosmotoga olearia Strain TBF 19.5.1, sequence accession CP001634 [120]
- Domain Archaea
- "Candidatus Nitrosoarchaeum koreensis" MY1, sequence accession AFPU00000000 [121]
Non-Bacterial genomes
- North-European Cucumber Cucumis sativus L., sequence accession FI132140-FI136208, GS765762-GS766880, GS815969-GS874855 [122]
- Castor bean Ricinus communis organelle genome, sequence accession JF937588(chloroplast), HQ874649 (mitochondria) [123]
- Stretch Lagoon Orbivirus Umatilla, sequence accession HQ842619 through HQ842628 [124]
- Atlantic cod Gadus morhua, sequence accession CAEA01000001 through CAEA01554869 [125]
- Potato Solanum tuberosum L., sequence accession GS025503 through GS026177 [126]
- ΦCA82, sequence accession HQ264138 [127]
- Paramecium caudatumreveals mitochondria, sequence accession NC001324 [128]
- bacteriophage IME08, sequence accession NC_014260 [129]
- virus (ILTV), sequence accession HQ_630064 [130]
- Australian kangaroo Macropus eugenii, sequence accession ABQO000000000 [131]
- Aichi virus, sequence accession FJ890523 [132]
- "Candidatus Tremblaya princeps" Strain PCVAL, sequence accession CP002918 [133]
15.
Kajal Biswas Martin Couillard Luca Cavallone Sandra Burkett Stacey Stauffer Betty K. Martin Eileen Southon Susan Reid Teri M. Plona Ryan N. Baugher Stephanie D. Mellott Kristen M. Pike Mary E. Albaugh Chelsea Maedler-Kron Nancy Hamel Lino Tessarollo Victoria Marcus William D. Foulkes Shyam K. Sharan 《Cell death & disease》2021,12(9)
Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by germline pathogenic variants (GPVs) in DNA mismatch repair (MMR) genes. A common founder GPV in PMS2 in the Canadian Inuit population, NM_000535.5: c.2002A>G, leads to a benign missense (p.I668V) but also acts as a de novo splice site that creates a 5 bp deletion resulting in a truncated protein (p.I668*). Individuals homozygous for this GPV are predisposed to atypical constitutional MMR deficiency with a delayed onset of first primary malignancy. We have generated mice with an equivalent germline mutation (Pms2c.1993A>G) and demonstrate that it results in a splicing defect similar to those observed in humans. Homozygous mutant mice are viable like the Pms2 null mice. However, unlike the Pms2 null mice, these mutant mice are fertile, like humans homozygous for this variant. Furthermore, these mice exhibit a significant increase in microsatellite instability and intestinal adenomas on an Apc mutant background. Rectification of the splicing defect in human and murine fibroblasts using antisense morpholinos suggests that this novel mouse model can be valuable in evaluating the efficacy aimed at targeting the splicing defect in PMS2 that is highly prevalent among the Canadian Inuits.Subject terms: Cancer genetics, Colon cancer 相似文献
16.
Joy Armistead Sunita Khatkar Britta Meyer Nehal Patel Gail Coghlan Ryan E. Lamont Shuangbo Liu Peter A. Cattini Peter Koetter Cheryl R. Greenberg Karl-Dieter Entian Barbara Triggs-Raine 《American journal of human genetics》2009,84(6):728-739
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. Nearly all reported BCS cases have been among Hutterites, with an estimated birth prevalence of 1/355. We previously localized the BCS gene to a 1.9 Mbp interval on human chromosome 12p13.3. The 59 genes in this interval were ranked as candidates for BCS, and 35 of these, including all of the best candidates, were sequenced. We identified variant NM_006331.6:c.400A→G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS. This mutation segregated with disease, was not found in 414 non-Hutterite alleles, and altered a highly conserved aspartic acid (D) residue. A structural model of human EMG1 suggested that the D86 residue formed a salt bridge with arginine 84 that would be disrupted by the glycine (G) substitution. EMG1 mRNA was detected in all human adult and fetal tissues tested. In BCS patient fibroblasts, EMG1 mRNA levels did not differ from those of normal cells, but EMG1 protein was dramatically reduced in comparison to that of normal controls. In mammalian cells, overexpression of EMG1 harboring the D86G mutation decreased the level of soluble EMG1 protein, and in yeast two-hybrid analysis, the D86G substitution increased interaction between EMG1 subunits. These findings suggested that the D-to-G mutation caused aggregation of EMG1, thereby reducing the level of the protein and causing BCS. 相似文献
17.
The purpose of this table is to provide the community with a citable record of publications of ongoing genome sequencing projects that have led to a publication in the scientific literature. While our goal is to make the list complete, there is no guarantee that we may have omitted one or more publications appearing in this time frame. Readers and authors who wish to have publications added to subsequent versions of this list are invited to provide the bibliographic data for such references to the SIGS editorial office.
- Phylum Crenarchaeota
- Thermoproteus tenax, strain Kra1, DSM 2078T sequence accession FN869859 [1]
- Phylum Euryarchaeota
- Haloarcula hispanica CGMCC 1.2049, sequence accession CP002921 (chromosome I), CP002922 (chromosome II), and CP002923 (plasmid pHH400) [2]
- Methanococcus maripaludis, strain X1 (unculturable) sequence accession CP002913 [3]
- Phylum Proteobacteria
- Acinetobacter baumannii strain 1656-2, sequence accession CP001921 [4]
- Arcobacter butzleri strain ED-1, sequence accession AP012047, AP012048, and AP012049 [5]
- Brucella suis strain 1330, sequence accession CP002997 and CP002998 [6]
- Campylobacter fetus subsp. venerealis NCTC 10354, sequence accession AFGH01000000 [7]
- “Chromobacterium sp.” strain C-61, sequence accession CAEE01000001 to CAEE01001118 [8]
- Cronobacter sakazakii strain E899, sequence accession AFMO00000000 [9]
- “Desulfovibrio sp.” strain A2, sequence accession AGFG01000000 [10]
- “Erythrobacter sp.” strain NAP1, sequence accession NZ_AAMW00000000 [11]
- Escherichia coli strain XH140A, sequence accession AFVX01000000 [12]
- Escherichia coli strain XH001, sequence accession AFYG01000000 [13]
- Haemophilus haemolyticus strain M19107, sequence accession AFQN00000000 [14]
- Haemophilus haemolyticus strain M19501, sequence accession AFQO00000000 [14]
- Haemophilus haemolyticus strain M21127, sequence accession AFQP00000000 [14]
- Haemophilus haemolyticus strain M21621, sequence accession AFQQ00000000 [14]
- Haemophilus haemolyticus strain M21639, sequence accession AFQR00000000 [14]
- Idiomarina sp.” strain A28L, sequence accession AFPO01000001 to AFPO01000028 [15]
- Ketogulonicigenium vulgare” strain WSH-001, sequence accession CP002018 (chromosome), CP002019 (plasmid pKVU_100), and CP002020 (plasmid pKVU_200) [16]
- Methylobacter tundripaludum strain SV96, sequence accession AEGW00000000 [17]
- Pseudogulbenkiania sp.” strain NH8B, sequence accession AP012224 [18]
- Pseudomonas aeruginosa NCGM1179, sequence accession DF126593 through DF126613 [19]
- Pseudomonas putida strain B001, sequence accession CAED01000001 to CAEE01000262 [20]
- Pseudomonas putida strain B6-2, sequence accession AGCS01000000 [21]
- Pseudomonas stutzeri CGMCC 1.1803, sequence accession CP002881 [22]
- Ralstonia solanacearum phylotype IB, strain Y45, sequence accession AFWL01000000 [23]
- Rheinheimera sp.” strain A13L, sequence accession AFHI01000001 through AFHI01000072 [24]
- Sphingobium yanoikuyae strain XLDN2-5, sequence accession AFXE01000000 [25]
- Vibrio cholerae strain Amazonia, sequence accession AFSV01000000 [26]
- Phylum Firmicutes
- Bacillus coagulans strain XZL4, sequence accession AFWM01000000 [27]
- Bacillus megaterium strain WSH-002, sequence accession CP003017 (chromosome), plasmids CP003018 (plasmid pBME_100), CP003019 (plasmid pBME_200), and CP003020 (plasmid pBME_300) [28]
- Bacillus pumilus strain S-1, sequence accession AGBY00000000 [29]
- “Desulfosporosinus sp.” strain OT, sequence accession AGAF01000000 [30]
- Lentibacillus jeotgali strain Grbi, sequence accession AGAV01000000 [31]
- Leuconostoc carnosum KCTC 3525, sequence accession BACM01000000 [32]
- Listeria ivanovii subsp. ivanovii strain PAM 55, sequence accession FR687253 [33]
- Paenibacillus riograndensis strain SBR5, sequence accession AGBD01000000 [34]
- Sporolactobacillus inulinus strain CASD, sequence accession AFVQ00000000 [35]
- Streptococcus pseudopneumoniae strain IS7493, sequence accession CP002925 and CP002926 [36]
- Streptococcus salivarius strain 57.I, sequence accession CP002888 and CP002889 [37]
- Streptococcus salivarius strain M18, sequence accession AGBV01000000 [38]
- Streptococcus suis SS12, sequence accession CP002640 [39]
- Streptococcus suis D9, sequence accession CP002641 [39]
- Streptococcus suis D12, sequence accession CP002644 [39]
- Streptococcus suis ST1, sequence accession CP002651 [39]
- Weissella thailandensis strain fsh4-2, sequence accession HE575133 through HE575182 [40]
- Phylum Tenericutes
- Mycoplasma anatis strain 1340, sequence accession AFVJ00000000 [41]
- Mycoplasma capricolum subsp. capripneumoniae strain M1601, sequence accession AENG01000000 [42]
- Mycoplasma putrefaciens Type strain KS1, sequence accession CP003021 [43]
- Corynebacterium pseudotuberculosis strain PAT10, sequence accession CP002924 [44]
- Phylum Actinobacteria
- Bifidobacterium animalis subsp. lactis strain BLC1, sequence accession CP003039 [45]
- Bifidobacterium breve strain DPC 6330, sequence accession AFXX01000000 [46]
- Brachybacterium squillarum strain M-6-3, sequence accession AGBX01000000 [47]
- “Citricoccus sp.” strain CH26A, sequence accession AFXQ01000000 [48]
- Corynebacterium glutamicum strain S9114, sequence accession AFYA01000000 [49]
- Dietzia alimentaria strain 72, sequence accession AGFF01000000 [50]
- Mycobacterium colombiense CECT 3035, sequence accession AFVW00000000 [51]
- Mycobacterium tuberculosis NCGM2209, sequence accession DF126614 and DF126615 [52]
- Rhodococcus erythropolis strain XP, sequence accession AGCF01000000 [53]
- Serinicoccus profundi MCCC 1A05965T, sequence accession AFYF00000000 [54]
- Phylum Spirochaetes
- Leptospira interrogans, sequence accession CP001221 (CI), CP001222 (CII) [55]
- Phylum Bacteroidetes
- Bacteroides faecis Type strain MAJ27T, sequence accession AGDG01000000 [56]
- Bizionia argentinensis, Type strain JUB59T sequence accession AFXZ01000000 [57]
- Flavobacterium branchiophilum strain FL-15, sequence accession FQ859183 [58]
- “Flavobacteriaceae” strain S85, sequence accession AFPK00000000 [59]
- Phylum Thermotogae
- “Thermotoga sp.” strain RQ2, sequence accession CP000969 [60]
Non-Bacterial genomes
- Aspergillus kawachii IFO 4308, sequence accession DF126447 through DF126592, BACL01000001 through BACL01001641, AP012272 [61]
- Cajanus cajan pigeonpea, sequence accession PRJNA72815 [62]
- Coxsackievirus A22, sequence accession JN542510 [63]
- Gordonia phage GRU1, sequence accession JF923797 [64]
- Gordonia phage GTE5, sequence accession JF923796 [64]
- Heterocephalus glaber naked mole rat, sequence accession AFSB00000000, AFSB01000000 [65]
- Human Adenovirus Prototype 17, sequence accession HQ910407 [66]
- Macaca mulatta lasiota rhesus macaque, sequence accession AEHL00000000 [67]
- Macaca mulatta mulatta rhesus macaque, sequence accession AEHK00000000 [67]
- Porcine epidemic diarrhea virus, sequence accession JN547228 [68]
18.
DNA sequencing has been revolutionized by the development of high-throughput sequencing technologies. Plummeting costs and the massive throughput capacities of second and third generation sequencing platforms have transformed many fields of biological research. Concurrently, new data processing pipelines made rapid de novo genome assemblies possible. However, high quality data are critically important for all investigations in the genomic era. We used chloroplast genomes of one Oryza species (O. australiensis) to compare differences in sequence quality: one genome (GU592209) was obtained through Illumina sequencing and reference-guided assembly and the other genome (KJ830774) was obtained via target enrichment libraries and shotgun sequencing. Based on the whole genome alignment, GU592209 was more similar to the reference genome (O. sativa: AY522330) with 99.2% sequence identity (SI value) compared with the 98.8% SI values in the KJ830774 genome; whereas the opposite result was obtained when the SI values in coding and noncoding regions of GU592209 and KJ830774 were compared. Additionally, the junctions of two single copies and repeat copies in the chloroplast genome exhibited differences. Phylogenetic analyses were conducted using these sequences, and the different data sets yielded dissimilar topologies: phylogenetic replacements of the two individuals were remarkably different based on whole genome sequencing or SNP data and insertions and deletions (indels) data. Thus, we concluded that the genomic composition of GU592209 was heterogeneous in coding and non-coding regions. These findings should impel biologists to carefully consider the quality of sequencing and assembly when working with next-generation data. 相似文献
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Jiseon Yang Jennifer Barrila Kenneth L. Roland Jacquelyn Kilbourne C. Mark Ott Rebecca J. Forsyth Cheryl A. Nickerson 《PLoS neglected tropical diseases》2015,9(6)
A distinct pathovar of Salmonella enterica serovar Typhimurium, ST313, has emerged in sub-Saharan Africa as a major cause of fatal bacteremia in young children and HIV-infected adults. D23580, a multidrug resistant clinical isolate of ST313, was previously shown to have undergone genome reduction in a manner that resembles that of the more human-restricted pathogen, Salmonella enterica serovar Typhi. It has since been shown through tissue distribution studies that D23580 is able to establish an invasive infection in chickens. However, it remains unclear whether ST313 can cause lethal disease in a non-human host following a natural course of infection. Herein we report that D23580 causes lethal and invasive disease in a murine model of infection following peroral challenge. The LD50 of D23580 in female BALB/c mice was 4.7 x 105 CFU. Tissue distribution studies performed 3 and 5 days post-infection confirmed that D23580 was able to more rapidly colonize the spleen, mesenteric lymph nodes and gall bladder in mice when compared to the well-characterized S. Typhimurium strain SL1344. D23580 exhibited enhanced resistance to acid stress relative to SL1344, which may lend towards increased capability to survive passage through the gastrointestinal tract as well as during its intracellular lifecycle. Interestingly, D23580 also displayed higher swimming motility relative to SL1344, S. Typhi strain Ty2, and the ST313 strain A130. Biochemical tests revealed that D23580 shares many similar metabolic features with SL1344, with several notable differences in the Voges-Proskauer and catalase tests, as well alterations in melibiose, and inositol utilization. These results represent the first full duration infection study using an ST313 strain following the entire natural course of disease progression, and serve as a benchmark for ongoing and future studies into the pathogenesis of D23580. 相似文献