共查询到20条相似文献,搜索用时 31 毫秒
1.
2.
William Barendse Sharon M. Armitage Ahmad Aleyasin James E. Womack 《Mammalian genome》2000,11(5):369-372
Two major differences were detected in gene order between the radiation hybrid map and the genetic linkage map of bovine
Chromosome (Chr) 5, and these were resolved by analyzing the raw radiation hybrid data by a quasi-phylogenetic method. Seventeen
loci were typed on the new cattle whole genome radiation hybrid panel. Most of these loci are framework loci and include AGLA293, BM315, BM6026, BP1, BZRP, CD9, CSSM22, CSSM34, CYP2D@, ETH2, ETH10, ETH152, IGF1, LALBA, SLC2A3, SYT1, and TPI1. BP1 was found to be closer to the centromere than either BM6026 or SYT1 with two standard computer software packages for analyzing radiation hybrid panel data. This is inconsistent with any of
the genetic linkage maps as well as their consensus. CYP2D@ was placed between ETH2 and BZRP, and this is also inconsistent with the genetic linkage maps, since CYP2D@ should be the most telomeric of the loci tested in this study. Resolution was reached by analyzing the raw radiation hybrid
data for clones that bind some but not all of the loci, and the binding pattern was more consistent with the linkage maps
and less consistent with the software-generated radiation hybrid map. The comparative mapping data confirm the relative inversion
of gene order of SYT1 compared with humans and mice. A non-polymorphic fragment for CD9 indicates the conservation of gene order for three loci
located on human Chr 12p. The genes of bovine Chr 5 conserved on human Chr 12p are located separately from the genes conserved
on human Chr 12q. It is recommended that the raw data for radiation hybrid maps be made publicly available so that conflicts
in gene order can be evaluated explicity.
Received: 19 February 1999 / Accepted: 3 January 2000 相似文献
3.
Multiple obesity QTLs identified in an intercross between the NZO (New Zealand obese) and the SM (small) mouse strains 总被引:2,自引:0,他引:2
Benjamin A. Taylor Christopher Wnek David Schroeder Sandra J. Phillips 《Mammalian genome》2001,12(2):95-103
The inheritance of adiposity levels has been investigated in an intercross of the obese, diabetes-prone NZO and the small,
lean SM mouse strains. Adiposity index (AI) was defined as the sum of four fat pad weights divided by body weight. DNA pools
from fat and lean mice were analyzed with microsatellite variants to screen the genome for quantitative trait loci (QTLs)
affecting AI. Ten significant QTLs affecting AI were identified on Chromosome (Chr) 1 (three loci), Chr 2, Chr 5 (two loci),
Chr 6 (two loci), Chr 7, and Chr 17. Most of the QTLs appear to be novel. Several QTLs differentially affect specific fat
depots. Thus, Chr 2 and Chr 7 QTLs affect gonadal more than inguinal fat, while the converse is true for the Chr 17 QTL. Gender
influences the expression of several of the QTLs. For example, effects of the proximal Chr 1 QTL (Obq7) on AI appears to be primarily in males. The proximal AI QTL on Chr 6 (Obq13) maps near the neuropeptide Y (Npy) locus. Sequence analysis of the Npy gene revealed a 1-nucleotide deletion within a highly conserved portion of the 3′ untranslated region in strain NZO. However,
the deletion is polymorphic among mouse strains. Furthermore, lack of association between this same variant and AI in previously
analyzed crosses raises doubt that it is the basis of Obq13. The present cross is the fourth in a series of intercrosses among 10 inbred strains arranged such that each strain is crossed
with each adjacent strain within a circle. This design affords multiple opportunities to analyze each segregating QTL.
Received: 17 July 2000 / Accepted: 9 October 2000 相似文献
4.
The linkage map of sheep Chromosome 6 compared with orthologous regions in other species 总被引:9,自引:0,他引:9
E. A. Lord J. M. Lumsden K. G. Dodds H. M. Henry A. M. Crawford H. A. Ansari P. D. Pearce D. W. Maher R. T. Stone S. M. Kappes C. W. Beattie G. W. Montgomery 《Mammalian genome》1996,7(5):373-376
The genetic linkage map of sheep Chromosome (Chr) 6 has been extended to include 35 loci with the addition of 11 RFLP and
12 microsatellite loci. The sex-averaged linkage map now spans 154 cM from phosphodiesterase cyclic GMP beta polypeptide (PDE6B) to OarCP125, an anonymous sheep microsatellite. The male and female map lengths, at 180 cM and 132 cM respectively, did not differ significantly.
The physical assignment of PDE6B to Chr 6q33-qter orientates the linkage map on sheep Chr 6 with PDE6B near the telomere and OarCP125 towards the centromere. The order and genetic distances between loci are similar for the sheep Chr 6 and cattle Chr 6 maps,
except for the position of the casein genes. The sheep Chr 6 linkage map is also comparable to portions of human Chr 4, mouse
Chrs 5 and 3, and pig Chr 8. The synteny between sheep Chr 6 and human Chr 4 has been extended from PDE6B (4p16.3) to epidermal growth factor (EGF, 4q25-q27). However, a region from platelet-derived growth factor receptor α polypeptide (PDGFRA) to bone morphogenetic protein 3 (BMP3), which spans 19 cM on sheep Chr 6, appears to be inverted with respect to the human and mouse loci. Other differences in
the gene order between sheep, pig, and mouse suggest more complex rearrangements.
Received: 16 August 1995 / Accepted: 12 December 1995 相似文献
5.
Nicholas Ho Hui Peng Chelsea Mayoh Pei Y. Liu Bernard Atmadibrata Glenn M. Marshall 《Cell cycle (Georgetown, Tex.)》2018,17(6):749-758
Neuroblastoma, the most common solid tumour in early childhood, is characterized by very frequent chromosomal copy number variations (CNVs). While chromosome 2p amplification, 17q gain, 1p and 11q deletion in human neuroblastoma tissues are well-known, the exact frequencies and boundaries of the chromosomal CNVs have not been delineated. We analysed the publicly available single nucleotide polymorphism (SNP) array data which were originally generated by the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative, defined the frequencies and boundaries of chromosomes 2p11.2 – 2p25.3 amplification, 17q11.1-17q25.3 gain, 1p13.3-1p36.33 deletion and 11q13.3-11q25 deletion in neuroblastoma tissues, and identified chromosome 7q14.1 (Chr7:38254795-38346971) and chromosome 14q11.2 (Chr14:21637401-22024617) deletion in blood and bone marrow samples from neuroblastoma patients, but not in tumour tissues. Kaplan Meier analysis showed that double deletion of Chr7q14.1 and Chr14q11.2 correlated with poor prognosis in MYCN gene amplified neuroblastoma patients. In conclusion, the oncogenes amplified or gained and tumour suppressor genes deleted within the boundaries of chromosomal CNVs in tumour tissues should be studied for their roles in tumourigenesis and as therapeutic targets. Focal deletions of Chr7q14.1 and Chr14q11.2 together in blood and bone marrow samples from neuroblastoma patients can be used as a marker for poorer prognosis and more aggressive therapies. 相似文献
6.
Vivienne P. Shortle Patrizia Malaspina Margaret Fox James S. Dooley Armin Volz Andreas Ziegler John Trowsdale Katie M. Morrison Yvonne H. Edwards 《Mammalian genome》1993,4(9):493-498
We have explored the potential of irradiation-fusion gene transfer (IFGT) hybrids as a source of well-defined human chromosome fragments from which probes can be derived. Extensive characterization of the IFGT hybrid 4J4 with a full panel of markers from Chromosome (Chr) 6 showed that the human DNA content derives largely from 6p21.3 and 6q27. A cosmid library has been constructed from 4J4 DNA, and 370 recombinants containing human DNA have been isolated and overlapping clones ordered into 20 contigs. Regional localization of representative clones from each contig, determined by fluorescent in situ hybridization (FISH), places 13 contigs in 6q27 and 6 in 6p21.3. Preliminary screening of cDNA libraries with selected cosmids has identified two expressed sequences. Since there are a number of medically important genes in both these regions of human Chr 6 with several disease loci linked to the HLA-A region in 6p21.3 and various tumor suppressor genes to 6q27, this library will provide a valuable resource to aid the isolation of candidate genes for these diseases. In addition, unique markers for detailed physical and genetic mapping of these regions of human Chr 6 can be easily obtained. 相似文献
7.
T. Kuramoto C. Sotelo N. Yokoi T. Serikawa E. Goñalons Sintes J. Cantó Martorell J. -L. Guénet 《Mammalian genome》1996,7(12):890-894
A recessive mutation exhibiting severe myelin breakdown, mainly at the level of the lumbar segments of the spinal cord and
without any associated inflammation, was discovered in a partially inbred rat colony. Analysis of the segregation patterns
of a set of polymorphic microsatellite markers in two inter-strain crosses allowed the mapping of this autosomal recessive
mutation to rat Chromosome (Chr) 17, very close to the prolactin (Prl) locus, in a region homologous to human Chr 6p21.2-22.3 and mouse Chr 13. The pathology of the demyelination process and
the chromosomal localization indicate that this mutation has no known equivalent in either mouse or human.
Received: 21 March 1996 / Accepted: 22 July 1996 相似文献
8.
Yu Y Zhu H Miller DT Gusella JF Platt OS Wu BL Shen Y;Children's Hospital Boston Genotype Phenotype Study Group 《遗传学报》2011,38(9):403-409
Recurrent genomic imbalances at 16p11.2 are genetic risk factors of variable penetrance for developmental delay and autism.Recently,16p11.2 (chr16:29.5 Mb-30.1 Mb) deletion has also been detected in individuals with early-onset severe obesity.The penetrance of 16p11.2deletion as a genetic risk factor for obesity is unknown.We evaluated the growth and body mass characteristics of 28 individuals with 16p11.2(chr16:29.5 Mb-30.1 Mb) deletion originally ascertained for their developmental disorders by reviewing their medical records.We found that nine individuals could be classilied as obese and six as overweight.These individuals generally had early feeding and growth difficulties,and started to gain excessive weight around 5-6 years of age.Thirteen out of the 18 deletion carriers aged 5 years and older (72%) were overweight or obese,whereas only two of 10 deletion carriers (20%) younger than five were overweight or obese.Males exhibited more severe obesity than females.Thus,the obesity phenotype of 16p11.2 deletion carriers is of juvenile onset,exhibited an age.and gender-dependent penetrance.16p11.2 deletion appears to predispose individuals to juvenile onset obesity and in this case are similar to the well-described Prader-Willi syndrome (PWS).Early detection of this deletion will provide opportunity to prevent obesity. 相似文献
9.
Alexander A. Bachmanov Xia Li Shanru Li Mauricio Neira Gary K. Beauchamp Edwin A. Azen 《Mammalian genome》2001,12(9):695-699
An acetylated sugar, sucrose octaacetate (SOA), tastes bitter to humans and has an aversive taste to at least some mice and
other animals. In mice, taste aversion to SOA depends on allelic variation of a single locus, Soa. Three Soa alleles determine `taster' (Soa
a
), `nontaster' (Soa
b
), and `demitaster' (Soa
c
) phenotypes of taste sensitivity to SOA. Although Soa has been mapped to distal Chromosome (Chr) 6, the limits of the Soa region have not been defined. In this study, mice from congenic strains SW.B6-Soa
b
, B6.SW-Soa
a
, and C3.SW-Soa
a/c
and from an outbred CFW strain were genotyped with polymorphic markers on Chr 6. In the congenic strains, the limits of introgressed
donor fragments were determined. In the outbred mice, linkage disequilibrium and haplotype analyses were conducted. Positions
of the markers were further resolved by using radiation hybrid mapping. The results show that the Soa locus is contained in a ∼1-cM (3.3–4.9 Mb) region including the Prp locus.
Received: 5 February, 2001 / Accepted: 1 May, 2001 相似文献
10.
T. R. Devereux R. W. Wiseman N. Kaplan S. Garren J. F. Foley C. M. White C. Anna M. A. Watson A. Patel S. Jarchow R. R. Maronpot M. W. Anderson 《Mammalian genome》1994,5(12):749-755
Previous studies have hypothesized that at least three genetic loci contribute to differences in pulmonary adenoma susceptibility between mouse strains A/J and C57BL/6J. One gene that may confer susceptibility to lung tumorigenesis is the Kras protooncogene. To identify other relevant loci involved in this polygenic trait, we determined tumor multiplicity in 56 randomly chosen N-ethyl-N-nitrosourea-treated (A/J×C57BL/6J) N1×C57BL/6 backcross (AB6N2) progeny and correlated it with genotypes at 77 microsatellite markers spanning the genome. A correlation of lung tumor multiplicity phenotypes with genotypes of microsatellite markers on distal Chromosome (Chr) 6 in the Kras region (Pas1) was confirmed, and a new region on Chr 19 (designated Pas3) was identified that also contributes to susceptibility. Linkage analysis on Chr 19 with 270 AB6N2 mice localized the region flanked by D19Mit42 and D19Mit19 that is most closely associated with lung tumor susceptibility. The Pas3 locus may be an enhancer of the susceptibility locus on Chr 6. 相似文献
11.
Guylaine Bouchard Heather M. Nelson Frank Lammert Lucy B. Rowe Martin C. Carey Beverly Paigen 《Mammalian genome》1999,10(11):1070-1074
The Lith1 region on Chromosome (Chr) 2 contains a gene that markedly affects the prevalence of cholesterol gallstones in inbred mice.
We report the high-resolution genetic and radiation hybrid maps of the chromosomal region surrounding Lith1, using three resources: a DNA panel from 188 progeny from two reciprocal backcrosses between C57BL/6 and Mus spretus inbred strains; 423 progeny of an N4 generation from backcrossing the susceptible C57L/J alleles at Lith1 into the resistant AKR/J strain; and the newly developed hamster–mouse T31 radiation hybrid panel. We mapped 17 microsatellite
markers in the D2Mit182 to D2Mit14 region and two candidate genes for Lith1, the canalicular bile salt export pump (Bsep) also known as sister of P-glycoprotein (Spgp) and the low-density-lipoprotein-receptor-related gene megalin (Gp330). Both genetic maps were in agreement and ordered the microsatellite markers into a 10.4 ± 1.5 cM region. The high-resolution
physical map revealed ordering of microsatellite markers and relative distances between markers in almost complete agreement
with the genetic maps. Mapping of Bsep revealed its location on Chr 2, homologous to the human chromosomal position (Nature Genet 20, 233–238, 1998). The radiation
hybrid results also provided the highest resolution of the area containing the two candidate genes, which both mapped in the
Lith1 region with close linkage, being separated by a distance of only 15 cR3000. The total radiation hybrid map length of the region between D2Mit182 and D2Mit14 was 326 cR3000, suggesting that 31 cR3000 is equivalent to 1 cM in this region of Chr 2.
Received: 29 April 1999 / Accepted: 21 July 1999 相似文献
12.
Mario Chiariello Laura De Gregorio Rosalba Vitelli Pietro Alifano Tommaso A. Dragani Carmelo B. Bruni Cecilia Bucci 《Mammalian genome》1998,9(6):448-452
Rab proteins are small GTP-ases localized to distinct membrane compartments in eukaryotic cells and regulating specific steps
of intracellular vesicular membrane traffic. The Rab7 protein is localized to the late endosomal compartment and controls
late steps of endocytosis. We have isolated, by library screening, the 5′ region, including the promoter, of the mouse Rab7 gene and a Rab7 pseudogene. We have mapped, by genetic linkage analysis, the mouse Rab7 gene on Chromosome (Chr) 6 and the Rab7-ps1 pseudogene on Chr 9, where the Rab7 gene has been previously reported to map. By radiation hybrid mapping, we have located the human RAB7 gene on Chr 3, in a
region homologous to the mouse Chr 6, where the Rab7 gene maps.
Received: 27 October 1997 / Accepted: 1 January 1998 相似文献
13.
Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume 总被引:3,自引:0,他引:3
Luanne L. Peters Weidong Zhang Amy J. Lambert Carlo Brugnara Gary A. Churchill Orah S. Platt 《Mammalian genome》2005,16(10):749-763
A substantial genetic contribution to baseline peripheral blood counts has been established. We performed quantitative trait
locus/loci (QTL) analyses to identify chromosome (Chr) regions harboring genes influencing the baseline white blood cell (WBC)
count, platelet (Plt) count, and mean platelet volume (MPV) in F2 intercrosses between NZW/LacJ, SM/J, and C57BLKS/J inbred mice. We identified six significant WBC QTL: Wbcq1 (peak LOD score at 38 cM, Chr 1), Wbcq2 (42 cM, Chr 3), Wbcq3 (0 cM, Chr 15), Wbcq4 (58 cM, Chr 1), Wbcq5 (82 cM, Chr 1), and Wbcq6 (8 cM, Chr 14). Three significant Plt QTL were identified: Pltq1 (24 cM, Chr 2), Pltq2 (36 cM, Chr 7), and Pltq3 (10 cM, Chr 12). Two significant MPV QTL were identified, Mpvq1 (62 cM, Chr 15) and Mpvq2 (44 cM, Chr 8). In total, the WBC QTL accounted for up to 31% of the total variance in baseline WBC count, while the Plt
and MPV QTL accounted for up to 30% and 49% of the total variance, respectively. These analyses underscore the genetic complexity
underlying these traits in normal populations and provide the basis for future studies to identify novel genes involved in
the regulation of mammalian hematopoiesis. 相似文献
14.
Caspase-2 is a member of the caspase family of cystein proteases involved in programmed cell death or apoptosis. Functional
and genetic data suggest it as a candidate gene for lymphopenia (Lyp)—a susceptibility gene for rat diabetes—which is responsible for the T-cell lymphopenia in the diabetes–prone BB rat. Firstly,
there is a higher frequency of apoptosis among recent thymic emigrants in the diabetes-prone BB rat than in the non-lymphopenic
diabetes-resistant BB rat. Secondly, caspase-2 maps close to Tcrb on mouse Chromosome (Chr) 6, while Lyp is closely linked to Tcrb on the homologous rat Chr 4. In this paper, we report genetic fine-positioning and radiation hybrid mapping of caspase-2
in the rat. Both methods positioned caspase-2 to rat Chr 4 between markers Prss1 and D4Mit5. Since Lyp maps distally to D4Mit5, between markers D4Rat75 and Npy, we exclude caspase-2 as a candidate gene for Lyp.
Received: 13 March 1998 / Accepted: 28 October 1998 相似文献
15.
16.
The adenylyl cyclases (AC) act as second messengers in regulatory processes in the central nervous system. They might be involved in the pathophysiology of diseases, but their biological function is unknown, except for AC type I, which has been implicated in learning and memory. We previously mapped the gene encoding AC I to human Chromosome (Chr) 7p12. In this study we report the mapping of the adenylyl cyclase genes type I–VI to mouse chromosomes by fluorescence in situ hybridization (FISH): Adcy1 to Chr 11A2, Adcy2 to 13C1, Adcy3 to 12A-B, Adcy4 to 14D3, Adcy5 to 16B5, and Adcy6 to 15F. We also confirmed previously reported mapping results of the corresponding human loci ADCY2, ADCY3, ADCY5, and ADCY6 to human chromosomes and, in addition, determined the chromosomal location of ADCY4 to human Chr 14q11.2. The mapping data confirm known areas of conservation between mouse and human chromosomes. 相似文献
17.
The porcine genes encoding the immunoglobulin gamma heavy chain (IGHG), cAMP-dependent protein kinase catalytic beta subunit (PRKACB), and transition protein 2 (TNP2) were mapped to Chromosomes (Chrs) 7 q25–q26, 6q31–q33, and 3p13-cent, respectively, by in situ hybridization. Localization of the IGHG gene confirms the assignment of linkage group III to Chr 7. Our results show that the IGHG locus in pigs, similar to the situation in other mammalian species, viz. humans, mouse, cattle, and river buffaloes, is located on the terminal region of the chromosome. The assignment of the PRKACB gene extends the homology observed between porcine Chr 6q and human Chr 1p. Mapping of the TNP2 gene provides the first marker assigned to the p arm of Chr 3 in pigs. The present study contributes to the development of the physical gene map in pigs and also bears significance in terms of comparative gene mapping. 相似文献
18.
Localization of growth arrest-specific genes on mouse Chromosomes 1, 7, 8, 11, 13, and 16 总被引:5,自引:0,他引:5
Mario P. Colombo Alessia Martinotti Thad A. Howard Claudio Schneider Peter D'Eustachio Michael F. Seldin 《Mammalian genome》1992,2(2):130-134
Growth arrest in NIH3T3 cells is associated with increased expression of a variety of mRNAs, several of which have been isolated as cDNA clones. Six of these growth arrest-specific (Gas) genes were mapped by following the inheritance of DNA restriction fragment length variants (RFLVs) associated with them in panels of recombinant inbred (RI) strains of mice and in the progeny of backcrosses both between laboratory mouse strains and between a laboratory strain and Mus spretus. The six genes are unlinked. Gas-1 maps to Chromosome (Chr) 13, Gas-2 to Chr 7, Gas-3 to Chr 11, Gas-4 to Chr 16, Gas-6 to Chr 8, and Gas-10 to Chr 1. 相似文献
19.
Wesley G. Beamer Kathryn L. Shultz Gary A. Churchill Wayne N. Frankel David J. Baylink Clifford J. Rosen Leah Rae Donahue 《Mammalian genome》1999,10(11):1043-1049
Genetic analyses for loci regulating bone mineral density have been conducted in a cohort of F2 mice derived from intercross matings of (C57BL/6J × CAST/EiJ)F1 parents. Femurs were isolated from 714 4-month-old females when peak adult bone density had been achieved. Bone mineral density
(BMD) data were obtained by peripheral quantitative computed tomography (pQCT), and genotype data were obtained by Polymerase
Chain Reaction (PCR) assays for polymorphic markers carried in genomic DNA of each mouse. Genome-wide scans for co-segregation
of genetic marker data with high or low BMD revealed loci on eight different chromosomes, four of which (Chrs 1, 5, 13, and
15) achieved conservative statistical criteria for suggestive, significant, or highly significant linkage with BMD. These
four quantitative trait loci (QTLs) were confirmed by a linear regression model developed to describe the main effects; none
of the loci exhibited significant interaction effects by ANOVA. The four QTLs have been named Bmd1 (Chr 1), Bmd2 (Chr 5), Bmd3 (Chr 13), and Bmd4 (Chr 15). Additive effects were observed for Bmd1, recessive for Bmd3, and dominant effects for Bmd2 and Bmd4. The current large size of the QTL regions (6→31 cM) renders premature any discussion of candidate genes at this time. Fine
mapping of these QTLs is in progress to refine their genetic positions and to evaluate human homologies.
Received: 5 May 1999 / Accepted: 22 June 1999 相似文献
20.
The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3 总被引:3,自引:0,他引:3
Joanne L. Banyer Stefano Goldwurm Lara Cullen Benjamin van der Griend Anna Zournazi Darren J. Smit Laurie W. Powell Elizabeth C. Jazwinska 《Mammalian genome》1998,9(3):235-239
Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome.
Subsequent divergent evolution of the genes within paralogous regions can lead to the formation of gene families. Here, we
report the identification of a region on Chromosome (Chr) 6 at 6p21.3 that is paralogous with the Spinal Muscular Atrophy
(SMA) gene region on Chr 5 at 5q13.1. Partial characterization of this region identified nine sequences all of which are highly
homologous to DNA sequences of the SMA gene region at 5q13.1. These sequences include four β-glucuronidase sequences, two
retrotransposon sequences, a novel cDNA, a Sequence Tagged Site (STS), and one that is homologous to exon 9 of the Neuronal
Apoptosis Inhibitor Protein (NAIP) gene. The 6p21.3 paralogous SMA region may contain genes that are related to those in the
SMA region at 5q13.1; however, a direct association of this region with SMA is unlikely given that no linkage of SMA with
Chr 6 has been reported.
Received: 12 May 1997 / Accepted: 13 November 1997 相似文献