共查询到20条相似文献,搜索用时 31 毫秒
1.
2.
Huiping Zhu Robert M Cabrera Bogdan J Wlodarczyk Daniel Bozinov Deli Wang Robert J Schwartz Richard H Finnell 《BMC developmental biology》2007,7(1):128
Background
Heart anomalies are the most frequently observed among all human congenital defects. As with the situation for neural tube defects (NTDs), it has been demonstrated that women who use multivitamins containing folic acid peri-conceptionally have a reduced risk for delivering offspring with conotruncal heart defects [1–3]. Cellular folate transport is mediated by a receptor or binding protein and by an anionic transporter protein system. Defective function of the Folr1 (also known as Folbp1; homologue of human FRα) gene in mice results in inadequate transport, accumulation, or metabolism of folate during cardiovascular morphogenesis. 相似文献3.
4.
Yongjie Xu Wenmin Yu Yuanzhu Xiong Hongtao Xie Zhuqing Ren Dequan Xu Minggang Lei Bo Zuo Xiaoting Feng 《Molecular biology reports》2011,38(5):2903-2909
SRPK3 is a protein kinase belonging to serine/arginine protein kinases (SRPK) family, which phosphorylates serine/arginine
repeat-containing proteins, and is controlled by a muscle-specific enhancer directly regulated by MEF2. In this study, a full-length
cDNA of the porcine SRPK3 gene encoding a 566 amino acid protein was isolated. It contains 14 exons over approximately 4.3 kb. The deduced amino acid
sequence of porcine SRPK3 contains a bipartite kinase domain, and shows high similarities to their corresponding human and
cattle homologues. Tissue distribution analysis indicated that porcine SRPK3 mRNAs are highly expressed in heart and skeletal muscle especially in uterus and parorchis, but at low level in brain, stomach,
small intestine, and ovary. Expression pattern of SRPK3 was similar in Large White and Chinese Meishan breeds. Both the two breeds had the highest expression levels at fetal 65 days
(P < 0.01), and decreased while the age increased until 60 days old, then increased at 120 days (P < 0.01) and decreased at 180 days (P < 0.05). However, at fetal 65 days, the mRNA abundance of SRPK3 in Large White was 12.5-fold higher than in Meishan pigs (P < 0.01), whereas at 180 days, the abundance in Meishan was 3.4-fold higher than in Large White pigs (P < 0.01). These results suggest that the SRPK3 gene might be an important gene of skeletal muscle development and also provides basic molecular information useful for further
studies on its roles in porcine skeletal muscle. 相似文献
5.
Hermansky-Pudlak syndrome (HPS) is a group of rare, recessive disorders in which oculocutaneous albinism, progressive pulmonary fibrosis, bleeding diathesis, and other abnormalities result from defective biogenesis of multiple cytoplasmic organelles. Seven different HPS genes are known in humans; in mouse, at least 16 loci are associated with HPS-like mutant phenotypes. In the rat, only two HPS models are known, Fawn-hooded (FH) and Tester Moriyama (TM), non-complementing strains in which HPS-like hypopigmentation and platelet storage pool deficiency result from a mutation of the Ruby (red eyed dilution; R) locus on Chromosome (Chr) 1. We have identified the R locus as the Rab38 gene, establishing that rat R is homologous to mouse chocolate (cht). Further, we show that FH and TM rats have identical Rab38 Met1Ile mutations, occurring on an identical Chr 1 marker allele haplotype, indicating that these two strains derive from a common ancestor. This ancestor appears to have been a sub-strain of the outbred Long Evans (LE) strain, and several modern LE sub-strains carry the Rab38 Met1Ile R mutation on the same Chr 1 marker haplotype. These findings have significant implications for the many past and ongoing studies that involve the FH and LE-derivative rat strains.
Hermansky-Pudlak syndrome (HPS; MIM 203300) is a group of autosomal recessive diseases in which oculocutaneous albinism (OCA), progressive and fatal pulmonary fibrosis, and bleeding diathesis due to platelet storage pool deficiency result from defects in the biogenesis of specific cytoplasmic organelles and granules: melanosomes, lysosomes, and platelet dense granules (reviewed in Spritz 1999, 2000; Spritz et al. 2003). In humans, seven different HPS genes are known (Oh et al. 1996; DellAngelica et al. 1999; Anikster et al. 2001; Suzuki et al. 2002; Li et al. 2003; Zhang et al. 2003). In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci (Swank et al. 1998; Bennett and Lamoreux 2003).
The nucleotide sequence data reported in this paper have been submitted to GenBank and have been assigned the accession number AY425759.
(Naoki Oiso) Present address: Department of Dermatology, Saiseikai Tondabayashi Hospital, Tondabayashi, Osaka 584-0082, Japan. 相似文献
6.
Beta‐globin gene evolution in the ruminants: evidence for an ancient origin of sheep haplotype B
下载免费PDF全文
![点击此处可从《Animal genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Domestic sheep (Ovis aries) can be divided into two groups with significantly different responses to hypoxic environments, determined by two allelic beta‐globin haplotypes. Haplotype A is very similar to the goat beta‐globin locus, whereas haplotype B has a deletion spanning four globin genes, including beta‐C globin, which encodes a globin with high oxygen affinity. We surveyed the beta‐globin locus using resequencing data from 70 domestic sheep from 42 worldwide breeds and three Ovis canadensis and two Ovis dalli individuals. Haplotype B has an allele frequency of 71.4% in O. aries and was homozygous (BB) in all five wild sheep. This shared ancestry indicates haplotype B is at least 2–3 million years old. Approximately 40 kb of the sequence flanking the ~37‐kb haplotype B deletion had unexpectedly low identity between haplotypes A and B. Phylogenetic analysis showed that the divergent region of sheep haplotype B is remarkably distinct from the beta‐globin loci in goat and cattle but still groups with the Ruminantia. We hypothesize that this divergent ~40‐kb region in haplotype B may be from an unknown ancestral ruminant and was maintained in the lineage to O. aries, but not other Bovidae, evolving independently of haplotype A. Alternatively, the ~40‐kb sequence in haplotype B was more recently acquired by an ancestor of sheep from an unknown non‐Bovidae ruminant, replacing part of haplotype A. Haplotype B has a lower nucleotide diversity than does haplotype A, suggesting a recent bottleneck, whereas the higher frequency of haplotype B suggests a subsequent spread through the global population of O. aries. 相似文献
7.
Pierre Mein 《Pal?ontologische Zeitschrift》2009,83(1):141-150
In this note the taxonomic position of the tiny eomyid genus Keramidomys (Hartenberger, 1967) from the Early/Middle Miocene boundary locality of Sandelzhausen in the Bavarian Upper Freshwater Molasse is reexamined.
As the chronological dating of the Sandelzhausen fossil site has been modified in the past from formerly the Neogene mammal
unit MN6 to now MN5 and thanks to new abundant material this rodent is compared with other European forms. It is shown that
the Sandelzhausen eomyid must be called K. thaleri Hugueney & Mein, 1968 on the basis of several morphological dental differences from K. carpathicus Schaub & Zapfe, 1953. This rodent seems to be an immigrant from East Asia into Europe. Even if K. thaleri is known in many European localities, all correlated to MN5, it is always a rare element of European rodent faunas. Differentiation
from K. carpathicus is not easy and requires a sufficiently large sample.
相似文献
8.
9.
10.
Finkers-Tomczak A Bakker E de Boer J van der Vossen E Achenbach U Golas T Suryaningrat S Smant G Bakker J Goverse A 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2011,122(3):595-608
The H1 locus confers resistance to the potato cyst nematode Globodera rostochiensis pathotypes 1 and 4. It is positioned at the distal end of chromosome V of the diploid Solanum tuberosum genotype SH83-92-488 (SH) on an introgression segment derived from S. tuberosum ssp. andigena. Markers from a high-resolution genetic map of the H1 locus (Bakker et al. in Theor Appl Genet 109:146–152, 2004) were used to screen a BAC library to construct a physical map covering a 341-kb region of the resistant haplotype coming
from SH. For comparison, physical maps were also generated of the two haplotypes from the diploid susceptible genotype RH89-039-16
(S. tuberosum ssp. tuberosum/S. phureja), spanning syntenic regions of 700 and 319 kb. Gene predictions on the genomic segments resulted in the identification of
a large cluster consisting of variable numbers of the CC-NB-LRR type of R genes for each haplotype. Furthermore, the regions were interspersed with numerous transposable elements and genes coding
for an extensin-like protein and an amino acid transporter. Comparative analysis revealed a major lack of gene order conservation
in the sequences of the three closely related haplotypes. Our data provide insight in the evolutionary mechanisms shaping
the H1 locus and will facilitate the map-based cloning of the H1 resistance gene. 相似文献
11.
Y. Li S. L. Yang Z. L. Tang W. T. Cui Y. L. Mu M. X. Chu S. H. Zhao Z. F. Wu K. M. Peng K. Li 《Molecular biology reports》2010,37(3):1309-1317
As a component of E3 ubiquitin protein ligases called SCFs, SKP2 protein belongs to a member of FBLs protein which is the biggest eukaryotic subfamily of F-BOX proteins with 12 members.
In this study, we cloned and sequenced partial cDNA, intron 1 and intron 6 of porcine SKP2 gene. The partial cDNA is 1,402 bp long and has an open reading frame of 1,272 bp which encodes 424 putative amino acids.
The deduced protein comprises a conserved F-BOX domain at position from the 90th to 140th amino acid. The phylogenetic tree
indicated that porcine SKP2 has the closest genetic relationship with bovine SKP2 than other selected animal species. Quantitative RT-PCR analysis displayed that the tissue expression level of porcine SKP2 fluctuated remarkably in a large range, and it expressed in thymus with the highest level and in longissimus dorsi muscle
with the lowest level. Two SNPs were identified, meanwhile, further polymorphism analysis with Cfr42I showed that AA genotype
was in dominance absolutely among four kinds of unrelated Chinese indigenous miniature and one introduced Landrace pig breeds.
In addition, association analysis with immune traits and blood parameters revealed that the SNP Cfr42I in intron 1 was significantly
associated with red cell distribution width of neonate piglets at 0 day (P = 0.027). 相似文献
12.
13.
Tomás Villaseñor Susana Brom Araceli Dávalos Luis Lozano David Romero Alejandro García-de los Santos 《BMC microbiology》2011,11(1):66
Background
A traditional concept in bacterial genetics states that housekeeping genes, those involved in basic metabolic functions needed for maintenance of the cell, are encoded in the chromosome, whereas genes required for dealing with challenging environmental conditions are located in plasmids. Exceptions to this rule have emerged from genomic sequence data of bacteria with multipartite genomes. The genome sequence of R. etli CFN42 predicts the presence of panC and panB genes clustered together on the 642 kb plasmid p42f and a second copy of panB on plasmid p42e. They encode putative pantothenate biosynthesis enzymes (pantoate-β-alanine ligase and 3-methyl-2-oxobutanoate hydroxymethyltransferase, respectively). Due to their ubiquitous distribution and relevance in the central metabolism of the cell, these genes are considered part of the core genome; thus, their occurrence in a plasmid is noteworthy. In this study we investigate the contribution of these genes to pantothenate biosynthesis, examine whether their presence in plasmids is a prevalent characteristic of the Rhizobiales with multipartite genomes, and assess the possibility that the panCB genes may have reached plasmids by horizontal gene transfer. 相似文献14.
Anna Granlund Marianne Jensen-Waern Birgitta Essén-Gustavsson 《Acta veterinaria Scandinavica》2011,53(1):20
Background
AMP-activated protein kinase (AMPK) plays an important role in the regulation of glucose and lipid metabolism in skeletal muscle. Many pigs of Hampshire origin have a naturally occurring dominant mutation in the AMPK γ3 subunit. Pigs carrying this PRKAG3 (R225Q) mutation have, compared to non-carriers, higher muscle glycogen levels and increased oxidative capacity in m. longissimus dorsi, containing mainly type II glycolytic fibres. These metabolic changes resemble those seen when muscles adapt to an increased physical activity level. The aim was to stimulate AMPK by exercise training and study the influence of the PRKAG3 mutation on metabolic and fibre characteristics not only in m. longissimus dorsi, but also in other muscles with different functions. 相似文献15.
Background
The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 kb of Tnfrh1 is a related gene called Tnfrh2 (Tnfrsf22) These duplicated genes encode putative decoy receptors in the tumor necrosis factor (TNF) receptor family. Although other genes in this chromosomal region show conserved synteny with genes on human Chr11p15.5, there are no obvious human orthologues of Tnfrh1 or Tnfrh2. 相似文献16.
Olga Renner Simone Harsch Elke Schaeffeler Matthias Schwab Dietmar M. Klass Wolfgang Kratzer Eduard F. Stange 《Human genetics》2009,125(4):381-391
The apical sodium-dependent bile acid transporter (SLC10A2) plays a key role in the reabsorption of luminal bile acids into the enterohepatic circulation. Rare variations in SLC10A2 have been reported to be associated with Crohn’s disease, primary bile acid malabsorption and familial hypertriglyceridemia;
however, variants associated with reduced SLC10A2 expression have not been reported to date. In this study, we have performed a sequence analysis of SLC10A2 using genomic DNA of 93 individuals. A new haplotype structure was identified including ten variants with complete linkage
disequilibrium (LD′ = 1.0, r
2 = 1.0) of which six polymorphisms were novel. The sequence variants were confirmed in three independent cohorts (n = 1,290) by a recently established MALDI-TOF MS iPLEX™ assay. Remarkably, haplotype carriers with the minor allele exhibited
significant reduced ileal SLC10A2 expression on mRNA levels (2.6-fold, P = 0.0009) and protein levels (2.4-fold, P = 0.0157). In future studies a single tag SNP selected of this haplotype block will provide reliable genetic testing to investigate
systemically the influence of the SLC10A2 haplotype for disease susceptibility and/or drug response.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
17.
Jun J. Sato Akio Shinohara Nobumoto Miyashita Chihiro Koshimoto Kimiyuki Tsuchiya Ikuyo Nakahara Tetsuo Morita Hiromichi Yonekawa Kazuo Moriwaki Yasunori Yamaguchi 《Mammalian genome》2008,19(3):155-162
Genetic characterization of a wild-derived house mouse, Mus musculus, originally collected near Lake Balkhash in the Republic of Kazakhstan, was performed by examining protein polymorphisms
and nucleotide sequences for the hemoglobin beta chain (HBB) subunits. Protein electrophoresis, which was performed on a cellulose-acetate
plate, showed an independent mobility pattern representing a new, previously undiscovered haplotype. Neighbor-joining analyses
of the HBB adult genes, i.e., HBB-T1 and HBB-T2, and the intergenic spacer region showed that the Lake Balkhash mouse possessed
genomic components that were mixed from different haplotypes. Compared to the previously determined HBB haplotypes, d, p, and w1, the HBB-T1 gene and ca. 11 kb of the spacer region were most similar to the w1 haplotype; however, the remainder of the spacer region and the HBB-T2 gene were most similar to the d haplotype but may represent a still uncharacterized and divergent haplotype. The recombination event is predicted to have
occurred 2.5 kb upstream of the HBB-T2 gene and may have occurred through intersubspecific hybridization between mice of the
musculus subspecies group (with the w1 haplotype) and the castaneus subspecies group (with the d-like haplotype). Alternatively, an unknown subspecies group that is equidistantly divergent from each of these subspecies
groups may have been involved. Our findings suggest reticulate evolution among the subspecies groups during the evolution
of M. musculus. 相似文献
18.
To gain insight into the metabolic design of the amino acid carrier systems in fish, we injected a bolus of 15N amino acids into the dorsal aorta in mature rainbow trout (Oncorhynchus mykiss). The plasma kinetic parameters including concentration, pool size, rate of disappearance (R
d), half-life and turnover rate were determined for 15 amino acids. When corrected for metabolic rate, the R
d values obtained for trout for most amino acids were largely comparable to human values, with the exception of glutamine (which
was lower) and threonine (which was higher). R
d values ranged from 0.9 μmol 100 g−1 h−1 (lysine) to 22.1 μmol 100 g−1 h−1 (threonine) with most values falling between 2 and 6 μmol 100 g−1 h−1. There was a significant correlation between R
d and the molar proportion of amino acids in rainbow trout whole body protein hydrolysate. Other kinetic parameters did not
correlate significantly with whole body amino acid composition. This indicates that an important design feature of the plasma-free
amino acids system involves proportional delivery of amino acids to tissues for protein synthesis. 相似文献
19.