共查询到20条相似文献,搜索用时 31 毫秒
1.
Yoshibumi Matsushima Tateki Kikuchi Hisae Kikuchi Nobutsune Ichihara Akira Ishikawa Yasushi Ishijima Masayoshi Tachibana 《Mammalian genome》2005,16(2):73-78
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive hereditary neurodegenerative disease of humans. So far, no responsible gene has been cloned or mapped to any chromosome. For chromosome mapping and positional cloning of the responsible gene, establishment of an animal model would be useful. Here we describe a new mouse model for INAD, named inad mouse. In this mouse, the phenotype is inherited in an autosomal recessive manner, symptoms occur in the infantile period, and the mouse dies before sexual maturity. Axonal dystrophic change appearing as spheroid bodies in central and peripheral nervous system was observed. These features more closely resembled human INAD than did those of the gad mouse, the traditional mouse model for INAD. Linkage analysis linked the inad gene to mouse Chromosome 1, with the highest LOD score (=128.6) at the D1Mit45 marker, and haplotype study localized the inad gene to a 7.5-Mb region between D1Mit84 and D1Mit25. In this linkage area some 60 genes exist: Mutation of one of these 60 genes is likely responsible for the inad mouse phenotype. Our preliminary mutation analysis in 15 genes examining the nucleotide sequence of exons of these genes did not find any sequence difference between inad mouse and C57BL/6 mouse. 相似文献
2.
Structural differences between the repertoires of mouse and human germline genes and their evolutionary implications 总被引:1,自引:0,他引:1
J. C. Almagro Ismael Hernández Maria Carmen Ramírez Enrique Vargas-Madrazo 《Immunogenetics》1998,47(5):355-363
Although human and mouse antibodies are similar when one considers their diversification strategies, they differ in the extent
to which kappa and lambda light chains are present in their respective variable light chain repertoires. While the Igk-V germline genes are preponderant in mice (95% or more), they comprise only 60% in humans. This may account for differences
in the structural repertoire encoded in the Igk-V germline genes of these species. However, this subject has not been properly investigated, partially because a systematic
structural characterization of the mouse Igk-V germline genes has not been undertaken. In the present study we compiled all available information on mouse Igk-V germline genes to characterize their structural repertoire. As expected, comparison with the structural repertoire of human
Igk-V germline genes indicates differences. The most interesting is that the mouse Igk-V germline gene repertoire is more diverse in structural terms than its human counterpart: the mouse encodes seven canonical
structure classes (combination of canonical structures in L1 and L3). In contrast, the human encodes only four. Analysis of
the evolutionary relationships of human and mouse Igk-V germline genes led us to propose that the difference reflects a strategy of mice to compensate for the small lambda chain
contribution to the repertoire of their variable light chains.
Received: 1 June 1997 / Revised: 6 October 1997 相似文献
3.
4.
Mutations in paired-box-containing (Pax) genes have recently been found to be the primary lesions underlying human genetic disorders such as Waardenburg's Syndrome type 1 and mouse developmental mutants such as undulated (un), splotch (Sp), and small eye (Sey). In addition, PAX-6 is a strong candidate gene for aniridia in man. Eight independent Pax genes have been isolated in the mouse. All eight map to distinct regions of the mouse genome; they do not appear to be clustered in the same way as some groups of homeobox-containing genes. We have now mapped the human homologs of all eight of these genes; PAX genes are found on human Chromosomes (Chr) 1, 2, 7, 9, 10, 11, and 20. 相似文献
5.
To examine the degree of conservation of gene organization in and around the class II regions of the major histocompatibility complexes of mouse and human, we have established the positions of sequences homologous to five human non-class II genes (RING1-5) in mouse, and the positions of sequences homologous to three mouse non-class II genes (KE3-5) in human. The resulting comparative map reveals that the organization of genes in the entire proximal region of the MHCs of mouse and human is remarkably conserved, apart from the H-2K gene pair in mouse, which can be accounted for by a 60 kilobase (kb) insertion. The characterization of the novel human gene RING5 is also presented. This gene, which is widely expressed, maps 85 kb proximal to the DPB2 gene. Partial nucleotide sequencing of a RING5 cDNA clone reveals that it is the human homolog of the mouse KE4 gene.The nucleotide sequence data reported in this paper have been submitted to the GenBank nucleotide sequence database and have been assigned the accession number M58660. 相似文献
6.
Christopher Hayes Andreas Rump Matthew R. Cadman Mark Harrison Edward P. Evans Mary F. Lyon Gillian M. Morriss-Kay Andr Rosenthal Steve D. M. Brown 《Genomics》2001,78(3):197
The mouse doublefoot (Dbf) mutant exhibits preaxial polydactyly in association with craniofacial defects. This mutation has previously been mapped to mouse chromosome 1. We have used a positional cloning strategy, coupled with a comparative sequencing approach using available human draft sequence, to identify putative candidates for the Dbf gene in the mouse and in homologous human region. We have constructed a high-resolution genetic map of the region, localizing the mutation to a 0. 4-cM (±0.0061) interval on mouse chromosome 1. Furthermore, we have constructed contiguous BAC/PAC clone maps across the mouse and human Dbf region. Using existing markers and additional sequence tagged sites, which we have generated, we have anchored the physical map to the genetic map. Through the comparative sequencing of these clones we have identified 35 genes within this interval, indicating that the region is gene-rich. From this we have identified several genes that are known to be differentially expressed in the developing mid-gestation mouse embryo, some in the developing embryonic limb buds. These genes include those encoding known developmental signaling molecules such as WNT proteins and IHH, and we provide evidence that these genes are candidates for the Dbf mutation. 相似文献
7.
Genomic structure, mapping, and expression analysis of the mammalian Lunatic, Manic, and Radical fringe genes 总被引:3,自引:0,他引:3
Jennifer L. Moran Stuart H. Johnston Cordelia Rauskolb Jayant Bhalerao Anne M. Bowcock Thomas F. Vogt 《Mammalian genome》1999,10(6):535-541
The three members of the mammalian fringe gene family, Manic fringe (Mfng), Radical fringe (Rfng), and Lunatic fringe (Lfng), were identified on the basis of their similarity to Drosophila fringe (fng) and their participation in the evolutionarily conserved Notch receptor signaling pathway. Fringe genes encode pioneer secretory
proteins with weak similarity to glycosyltransferases. Both expression patterns and functional studies support an important
role for Fringe genes in patterning during embryonic development and an association with cellular transformation. We have
now further characterized the expression and determined the chromosomal localization and genomic structure of the mouse Mfng, Rfng, and Lfng genes; the genomic structure and conceptual open reading frame of the human RFNG gene; and the refined chromosomal localization
of the three human fringe genes. The mouse Fringe genes are expressed in the embryo and in adult tissues. The mouse and human
Fringe family members map to three different chromosomes in regions of conserved synteny: Mfng maps to mouse Chr 15, and MFNG maps to human Chr 22q13.1 in the region of two cancer-associated loci; Lfng maps to mouse Chr 5, and LFNG maps to human Chr 7p22; Rfng maps to mouse Chr 11, and RFNG maps to human Chr 17q25 in the minimal region for a familial psoriasis susceptibility locus.
Characterization of the genomic loci of the Fringe gene family members reveals a conserved genomic organization of 8 exons.
Comparative analysis of mammalian Fringe genomic organization suggests that the first exon is evolutionarily labile and that
the Fringe genes have a genomic structure distinct from those of previously characterized glycosyltransferases.
Received: 19 February 1999 / Accepted: 22 February 1999 相似文献
8.
High-resolution mapping of mouse Chromosome 8 identifies an evolutionary chromosomal breakpoint 总被引:3,自引:0,他引:3
Prabhjit K. Grewal Daniel J. Bolland Laura Carim Todd Jane E. Hewitt 《Mammalian genome》1998,9(8):603-607
The central region of mouse Chromosome (Chr) 8, containing the myodystrophy (myd) locus, is syntenic with human Chr 4q28-qter. The human neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD)
maps to Chr 4q35, and myd has been proposed as a mouse homolog of FSHD. We have employed a comparative mapping approach to investigate this relationship
further by extending the mouse genetic map of this region. We have ordered 12 genes in a single cross, 8 of which have human
homologs on 4q28-qter. The results confirm a general relationship between the most distal genes on human 4q and the most proximal
genes in the mouse 8 syntenic region. Despite chromosomal rearrangements of syntenic groups in this region, conservation of
gene order is maintained between the group of genes in the human telomeric region of 4q35 and MMU8. Furthermore, this conserved
telomeric HSA4q35 syntenic group maps proximal to the myd mutation and is flanked by genes with homologs on HSA8p22. At the proximal boundary of the MMU8 linkage group we have identified
a single 300-kb YAC containing the genes Frgl and Pcml, which have human homologs on 4q35 and 8p22, respectively. Thus, this YAC spans an evolutionary chromosomal breakpoint. As
well as providing clues about chromosomal evolution, this map of the FSHD syntenic mouse region should prove invaluable in
the isolation of candidate genes for this disease.
Received: 20 January 1998 / Accepted: 10 April 1998 相似文献
9.
A genome-wide survey on basic helix-loop-helix transcription factors in rat and mouse 总被引:1,自引:0,他引:1
The basic helix-loop-helix (bHLH) proteins play essential roles in a wide range of developmental processes in higher organisms.
bHLH family members have been identified in over 20 organisms, including nematode, fruit fly, and human. Our study identified
114 rat and 14 additional mouse bHLH members in rat and mouse genomes, respectively. Phylogenetic analyses revealed that both
rat and mouse had 49, 26, 15, 4, 12, and 4 bHLH members in groups A, B, C, D, E, and F, respectively. Only the rat Mxi1 gene has two copies in the genome. All other rat bHLH genes and all mouse bHLH genes are single-copy genes. The chromosomal distribution pattern of mouse, rat, and human bHLH genes suggests the emergence of some bHLH genes through gene duplication, which probably happened at least before the divergence of vertebrates from invertebrates.
The present study provides useful information for future studies using rat as a model animal for mammalian development.
X. Zheng and Y. Wang are jointly first authors.
An erratum to this article can be found at 相似文献
10.
Most genes with regulatory functions in embryogenesis are expressed in highly specific patterns, suggesting that expression patterns can serve as criteria to define potential candidates fur developmentally relevant genes. To isolate such genes, we selected and partially sequenced 80 cDNA clones from a 10.5-day mouse embryo library. Forty-one clones that represented novel mouse genes were analyzed for expression in embryos of the same stage by whole-mount in situ hybridization. A high proportion (24%) of these genes, including a homologue of the Drosophila Delta gene, were expressed in specific spatially restricted patterns, suggesting that selection based on expression patterns is a useful strategy to isolate novel genes that may play pivotal roles in mammalian development. 相似文献
11.
《Cell cycle (Georgetown, Tex.)》2013,12(16):2779-2791
It is a well-established fact that the tRNA genes in yeast can function as chromatin barrier elements. However, so far there is no experimental evidence that tRNA and other Pol III-transcribed genes exhibit barrier activity in mammals. This study utilizes a recently developed reporter gene assay to test a set of Pol III-transcribed genes and gene clusters with variable promoter and intergenic regions for their ability to prevent heterochromatin-mediated reporter gene silencing in mouse cells. The results show that functional copies of mouse tRNA genes are effective barrier elements. The number of tRNA genes as well as their orientation influence barrier function. Furthermore, the DNA sequence composition of intervening and flanking regions affects barrier activity of tRNA genes. Barrier activity was maintained for much longer time when the intervening and flanking regions of tRNA genes were replaced by AT-rich sequences, suggesting a negative role of DNA methylation in the establishment of a functional barrier. Thus, our results suggest that tRNA genes are essential elements in establishment and maintenance of chromatin domain architecture in mammalian cells. 相似文献
12.
Shuji Nakamura David W. Stock Karen L. Wydner Jacques A. Bollekens Kenichi Takeshita Brian M. Nagai Shigeru Chiba Toshio Kitamura Thomas M. Freeland Zhiyong Zhao Jun Minowada Jeanne B. Lawrence Kenneth M. Weiss Frank H. Ruddle 《Genomics》1996,38(3):314
We have cloned a new Dlx gene (Dlx7) from human and mouse that may represent the mammalian orthologue of the newt geneNvHBox-5.The homeodomains of these genes are highly similar to all other vertebrate Dlx genes, and regions of similarity also exist between mammalian Dlx7 and a subset of vertebrate Dlx genes downstream of the homeodomain. The sequence divergence between human and mouse Dlx7 in these regions is greater than that predicted from comparisons of other vertebrate Dlx genes, however, and there is little sequence similarity upstream of the homeodomain both between these two genes and with other Dlx genes. We present evidence for alternative splicing of mouseDlx7upstream of the homeodomain that may account for some of this divergence. We have mapped humanDLX7distal to the 5′ end of the HOXB cluster at an estimated distance of between 1 and 2 Mb by FISH. Both the human and the mouse Dlx7 are shown to be closely linked to Dlx3 in a convergently transcribed orientation. These mapping results support the possibility that vertebrate distal-less genes have been duplicated in concert with the Hox clusters. 相似文献
13.
Jing-Hua Chai Devin P. Locke Tohru Ohta John M. Greally Robert D. Nicholls 《Mammalian genome》2001,12(11):813-821
Prader-Willi syndrome (PWS) results from loss of function of a 1.0- to 1.5-Mb domain of imprinted, paternally expressed genes
in human Chromosome (Chr) 15q11-q13. The loss of imprinted gene expression in the homologous region in mouse Chr 7C leads
to a similar neonatal PWS phenotype. Several protein-coding genes in the human PWS region are intronless, possibly arising
by retrotransposition. Here we present evidence for continued acquisition of genes by the mouse PWS region during evolution.
Bioinformatic analyses identified a BAC containing four genes, Mkrn3, Magel2, Ndn, Frat3, and the Atp5l-ps1 pseudogene, the latter two genes derived from recent L1-mediated retrotransposition. Analyses of eight overlapping BACs indicate
that these genes are clustered within 120 kb in two inbred strains, in the order tel–Atp5l-ps1–Frat3–Mkrn3–Magel2–Ndn–cen. Imprinting analyses show that Frat3 is differentially methylated and expressed solely from the paternal allele in a transgenic mouse model of Angelman syndrome,
with no expression from the maternal allele in a mouse model of PWS. Loss of Frat3 expression may, therefore, contribute to the phenotype of mouse models of PWS. The identification of five intronless genes
in a small genomic interval suggests that this region is prone to retroposition in germ cells or their zygotic and embryonic
cell precursors, and that it allows the subsequent functional expression of these foreign sequences. The recent evolutionary
acquisition of genes that adopt the same imprint as older, flanking genes indicates that the newly acquired genes become `innocent
bystanders' of a primary epigenetic signal causing imprinting in the PWS domain.
Received: 22 May, 2001 / Accepted: 16 July 2001 相似文献
14.
Masatake Araki Mai Nakahara Mayumi Muta Miharu Itou Chika Yanai Fumika Yamazoe Mikiko Miyake Ayaka Morita Miyuki Araki Yoshiyuki Okamoto Naomi Nakagata Kumiko Yoshinobu Ken‐ichi Yamamura Kimi Araki 《Development, growth & differentiation》2014,56(2):161-174
Gene trapping in embryonic stem (ES) cells is a proven method for large‐scale random insertional mutagenesis in the mouse genome. We have established an exchangeable gene trap system, in which a reporter gene can be exchanged for any other DNA of interest through Cre/mutant lox‐mediated recombination. We isolated trap clones, analyzed trapped genes, and constructed the database for Exchangeable Gene Trap Clones (EGTC) [ http://egtc.jp ]. The number of registered ES cell lines was 1162 on 31 August 2013. We also established 454 mouse lines from trap ES clones and deposited them in the mouse embryo bank at the Center for Animal Resources and Development, Kumamoto University, Japan. The EGTC database is the most extensive academic resource for gene‐trap mouse lines. Because we used a promoter‐trap strategy, all trapped genes were expressed in ES cells. To understand the general characteristics of the trapped genes in the EGTC library, we used Kyoto Encyclopedia of Genes and Genomes (KEGG) for pathway analysis and found that the EGTC ES clones covered a broad range of pathways. We also used Gene Ontology (GO) classification data provided by Mouse Genome Informatics (MGI) to compare the functional distribution of genes in each GO term between trapped genes in the EGTC mouse lines and total genes annotated in MGI. We found the functional distributions for the trapped genes in the EGTC mouse lines and for the RefSeq genes for the whole mouse genome were similar, indicating that the EGTC mouse lines had trapped a wide range of mouse genes. 相似文献
15.
To determine chromosome positions for 10 mouse phospholipase C (PLC) genes, we typed the progeny of two sets of genetic crosses
for inheritance of restriction enzyme polymorphisms of each PLC. Four mouse chromosomes, Chr 1, 11, 12, and 19, contained
single PLC genes. Four PLC loci, Plcb1, Plcb2, Plcb4, and Plcg1, mapped to three sites on distal mouse Chr 2. Two PLC genes, Plcd1 and Plcg2, mapped to distinct sites on Chr 8. We mapped the human homologs of eight of these genes to six chromosomes by analysis of
human × rodent somatic cell hybrids. The map locations of seven of these genes were consistent with previously defined regions
of conserved synteny; Plcd1 defines a new region of homology between human Chr 3 and mouse Chr 8.
Received: 24 January 1996 / Accepted: 2 April 1996 相似文献
16.
17.
The most telomeric class I region of the MHC in rat and mouse is the M region, which contains about 20 class I genes or gene fragments. The central part carries three class I genes—M4, M5, and M6—which are orthologous between the two species. M4 and M6 are pseudogenes in the mouse but transcribed, intact genes in the rat. To analyze the pseudogene status for the mouse genes in more detail, we have sequenced the respective exons in multiple representative haplotypes. The stop codons are conserved in all mouse strains analyzed, and, consistent with the pseudogene status, all strains show additional insertions and deletions, taking the genes further away from functionality. Thus, M4 and M6 indeed have a split status. They are silent in the mouse but intact in the closely related rodent, the rat.GenBank accession numbers: AF057065 to AF057072 (exon 3 of H2-M4 of reported mouse strains), AF057976 to AF057985 (exon 3 of RT1.M4 of reported rat strains), AF058923 and AF058924 (exon 2 of RT1.M4 of strains PVG and BN), AY286080 to AY286092 (exon 4 of H2-M6 of reported mouse stains), and AY303772 (full-length genomic sequence of RT1.M6-1l) 相似文献
18.
David J. Hayzer 《Immunogenetics》1990,32(3):157-174
The nucleotide sequences, and the derived protein sequences, of immunoglobulin (Ig) Igl, Igl-likeVpreB genes and the protein sequences ofIgl-C regions were aligned and compared. A classification of the Igl and Igl-likeVpreB sequences into three categories, designated groups I, II, and III, is proposed. Group I contains the human and mouse Igl-likeVpreB genes. Group II containsIgl-V genes of the rabbit and the recently described mouseIgl-Vx gene. Group III includes theIgl-V genes, encoding all other knownIgl-V region protein sequences, of mouse, rat, human, pig, sheep, and chicken. An evolutionary analysis of the three groups is presented, and suggests that the group III genes are evolving at a faster rate than those of the other groups and that within this group a further subdivision is possible; the V-encoding genes of mouse, rat, and one human subgroup evolve faster than other group III genes. It is suggested that all mammalian species containIgl-V genes of each group. A similar comparison between the protein sequences encoded by the knownIgl-C genes indicates that the duplication of theIgl-J-C gene pairs occured independently in each species, after mammalian speciation, and that theIgI-V-(J-C)(J-C) gene clusters of the mouse may not have their homologues in other species. 相似文献
19.
Andrew P. Spicer Michael F. Seldin Anne S. Olsen Nicholas Brown Dan E. Wells Norman A. Doggett Naoki Itano Koji Kimata Joji Inazawa John A. McDonald 《Genomics》1997,41(3):493
We have recently identified a new vertebrate gene family encoding putative hyaluronan (HA) synthases. Three highly conserved related genes have been identified, designatedHAS1, HAS2,andHAS3in humans andHas1, Has2,andHas3in the mouse. All three genes encode predicted plasma membrane proteins with multiple transmembrane domains and approximately 25% amino acid sequence identity to theStreptococcus pyogenesHA synthase, HasA. Furthermore, expression of any oneHASgene in transfected mammalian cells leads to high levels of HA biosynthesis. We now report the chromosomal localization of the threeHASgenes in human and in mouse. The genes localized to three different positions within both the human and the mouse genomes.HAS1was localized to the human chromosome 19q13.3–q13.4 boundary andHas1to mouse Chr 17.HAS2was localized to human chromosome 8q24.12 andHas2to mouse Chr 15.HAS3was localized to human chromosome 16q22.1 andHas3to mouse Chr 8. The map position forHAS1reinforces the recently reported relationship between a small region of human chromosome 19q and proximal mouse chromosome 17.HAS2mapped outside the predicted critical region delineated for the Langer–Giedion syndrome and can thus be excluded as a candidate gene for this genetic syndrome. 相似文献
20.
Guido Kroemer Arno Helmberg Alain Bernot Charles Auffray Reinhard Kofler 《Immunogenetics》1991,33(1):42-49
Similar to the Igh-V multigene family, the human or mouse Igk-V repertoirer is a distorted continuum of homologous genes that may be grouped into families displaying >80% nucleic acid sequence similarity among their members. systematic interspecies sequence comparisons reveal that most human Igk-V gene families exhibit clear homology to mouse Ogk-V families (sequence similarity >74%). A hypothetical phylogenetic tree of Igk-V genes predicts that a minimum of seven Igk-V genes/families predate mammalian radiation. In two cases, several interrelated mouse Igk-V families exhibit phylogenetic equidistance with just one human Igk-V family, implying a more pronounced divergence for the elevated number of Igk-V gene families in the mouse. Mouse-human Igk-V comaprisons, moreover, illustrate how expansion, contraction, and perhaps deletion of Igk-V gene families shape the Igk-V repertoire during mammalian evolution. 相似文献