共查询到20条相似文献,搜索用时 31 毫秒
1.
Maree L. Overall Nigel J. Parker Deborah L. Scarcella Peter J. Smith Marie Dziadek 《Mammalian genome》1998,9(8):657-659
STIM1 (GOK) maps to a region of human Chromosome (Chr) 11p15.5 that is implicated in several embryonal tumors, and some evidence
indicates that STIM1 may have a growth suppressor role in rhabdomyosarcoma. In this study we have mapped the murine homolog,
Stim1, to the same position as Hbb on distal mouse Chr 7. This region is separated by 20 cM from the region of distal Chr 7 that contains Igf2, H19, and other imprinted genes. Using strain-specific polymorphisms, we have shown that Stim1 is expressed from both parental alleles in fetal and neonatal mouse tissues. Similar analyses of human Wilms' tumor and normal
kidney tissues demonstrated biallelic expression of STIM1 in the majority of samples. These data demonstrate that Stim1 expression is not regulated by genomic imprinting in either mouse or human tissues. Thus, if STIM1 is a tumor suppressor
at 11p15.5, loss of expression is not due to imprinting effects.
Received: 23 January 1998 / Accepted: 10 April 1998 相似文献
2.
The genes for orosomucoid (ORM-1 and ORM-2), delta-aminolevulinate dehydratase (ALAD), and hexabrachion or tenascin (HXB) all map to the q31-qter region of human Chromosome (Chr) 9. The mouse homolog of each of these genes has been mapped to Chr 4, but hexabrachion has not previously been mapped by linkage analysis. We have now ordered Orm-1, Lv (the mouse homolog of ALAD), and Hxb in an interspecific backcross panel, by use of tyrosinase related protein-1, Tyrp-1, whose human homolog maps to 9p13-pter (Abbott et al., Genomics 1991) as a reference locus. No recombinants were identified in 124 animals between Lv and Orm-1. Hxb was found to be 1.6 cM distal to Lv and Orm-1, and 4.8 cM proximal to Tyrp-1, or b. These data therefore contribute to our knowledge of the conserved synteny between HSA 9q and MMU 4. 相似文献
3.
James Lund Bruce Roe Feng Chen Marcia Budarf Naomi Galili Roy Riblet Robert D. Miller Beverly S. Emanuel Roger H. Reeves 《Mammalian genome》1999,10(5):438-443
Proximal mouse Chromosome (Chr) 16 shows conserved synteny with human Chrs 16, 8, 22, and 3. The mouse Chr 16/human Chr 22
conserved synteny region includes the DiGeorge/Velocardiofacial syndrome region of human Chr 22q11.2. A physical map of the
entire mouse Chr 16/human Chr 22 region of conserved synteny has been constructed to provide a substrate for gene discovery,
genomic sequencing, and animal model development. A YAC contig was constructed that extends ca. 5.4 Mb from a region of conserved
synteny with human Chr 8 at Prkdc through the region conserved with human Chr 3 at DVL3. Sixty-one markers including 37 genes are mapped with average marker
spacing of 90 kb. Physical distance was determined across the 2.6-Mb region from D16Mit74 to Hira with YAC fragmentation. The central region from D16Jhu28 to Igl-C1 was converted into BAC and PAC clones, further refining the physical map and providing sequence-ready template. The gene
content and borders of three blocks of conserved linkage between human Chr 22q11.2 mouse Chr 16 are refined.
Received: 4 November 1998 / Accepted: 21 December 1998 相似文献
4.
Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5 总被引:1,自引:0,他引:1
C. L. S. Grosson M. E. MacDonald M. P. Duyao C. M. Ambrose S. Roffler-Tarlov J. F. Gusella 《Mammalian genome》1994,5(7):424-428
The mouse homologs of the Huntington's disease (HD) gene and 17 other human Chromosome (Chr) 4 loci (including six previously unmapped) were localized by use of an interspecific cross. All loci mapped in a continuous linkage group on mouse Chr 5, distal to En2 and Il6, whose human counterparts are located on Chr y. The relative order of the loci on human Chr 4 and mouse Chr 5 was maintained, except for a break between D5H4S115E and Idua/rd, with relocation of the latter to the opposite end of the map. The mouse HD homolog (Hdh) mapped within a cluster of seven genes that were completely linked in our data set. In human these loci span a1.8 Mb stretch of human 4p 16.3 that has been entirely cloned. To date, there is no phenotypic correspondence between human and mouse mutations mapping to this region of synteny conservation. 相似文献
5.
Shoichi Kawakami Kanae Mitsunaga Yara Yukie Kikuti Asako Ando Hidetoshi Inoko Ken-ichi Yamamura Kuniya Abe 《Mammalian genome》1998,9(11):874-880
Tctex3 showing restricted expression in male germ cells has been isolated during the process of chromosome walking in the mouse
t-complex region. The total sequence of Tctex3 cDNA predicts a protein of 580 amino acids with two C4HC3 type PHD fingers. The region containing this conserved motif is
shared among members of the Polycomblike proteins that include the mouse M96 and Drosophila Polycomblike. A partial cDNA for a human homolog of Tctex3, HUTEX3, has also been isolated. Mouse Tctex3 gene was mapped adjacent to Tsc2 gene on mouse Chromosome (Chr) 17, and HUTEX3 was located closely to HSET gene in the HLA class II region of chromosome 6.
Received: 10 April 1998 / Accepted: 22 June 1998 相似文献
6.
J. Hu N. Bumstead D. Burke F. A. Ponce de León E. Skamene P. Gros D. Malo 《Mammalian genome》1995,6(11):809-815
The chicken natural resistance-associated macrophage protein 1 (NRAMP1) gene has been mapped by linkage analysis by use of a reference panel to develop the chicken molecular genetic linkage map and by fluorescence in situ hybridization. The chicken homolog of the murine Nramp1 gene was mapped to a linkage group located on Chromosome (Chr) 7q13, which includes three genes (CD28, NDUSF1, and EF1B) that have previously been mapped either to mouse Chr 1 or to human Chr 2q. Physical mapping by pulsed-field gel electrophoresis revealed that NRAMP1 is tightly linked to the villin gene and that the genomic organization (gene order and presence of CpG islands) of the chromosomal region carrying NRAMP1 is well conserved between the chicken and mammalian genomes. The regions on mouse Chr 1, human Chr 2q, and chicken Chr 7q that encompass NRAMP1 represent large conserved chromosomal segments between the mammalian and avian genomes. The chromosome mapping of the chicken NRAMP1 gene is a first step in determining its possible role in differential susceptibility to salmonellosis in this species. 相似文献
7.
Oksana I. Dukhanina Vladimir E. Sverdlov Barbara Hoebee John P. Rapp 《Mammalian genome》1999,10(1):26-29
An improved linkage map for rat Chromosome (Chr) 10 with two F2 populations was constructed. Thirty new microsatellite markers were generated from a Chr 10-specific, small-insert genomic
library and mapped to rat Chr 10. Among them were the rat homologs for the mouse gene for light and heavy chains of myeloperoxidase
and human neurofibromatosis 1. Eight newly generated markers (D10Mco62, D10Mco63, D10Mco64, D10Mco65, D10Mco67, D10Mco68, D10Mco70, and D10Mco74) were mapped to the region of the rat Chr 10 blood pressure QTL. The availability of such markers may be instrumental in
the search for genes responsible for the hypertension.
Received: 13 July 1998 / Accepted: 9 September 1998 相似文献
8.
Kerstin Hasenpusch-Theil Brian P. Chadwick Thomas Theil Stephanie K. Heath David G. Wilkinson Anna-Marie Frischauf 《Mammalian genome》1999,10(3):294-298
We have isolated and characterized a novel PHD finger gene, PHF2, which maps to human Chromosome (Chr) 9q22 close to D9S196.
Its mouse homolog was also characterized and mapped to the syntenic region on mouse Chr 13. The predicted human and mouse
proteins are 98% identical and contain a PHD finger domain, eight possible nuclear localization signals, two potential PEST
sequences, and a novel conserved hydrophobic domain. Northern analysis shows widespread expression of PHF2 in adult tissues,
while in situ hybridization on mouse embryos reveals staining in the neural tube and dorsal root ganglia significantly above
a ubiquitous low level expression signal. From its expression pattern and its chromosomal localization, PHF2 is a candidate
gene for hereditary sensory neuropathy type I, HSN1.
Received: 9 July 1998 / Accepted: 16 October 1998 相似文献
9.
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
10.
J. Michael Salbaum 《Mammalian genome》1999,10(2):107-111
The mouse gene Punc encodes a member of the immunoglobulin superfamily of cell surface proteins. It is highly expressed in the developing embryo
in nervous system and limb buds. At mid-gestation, however, expression levels of Punc decrease sharply. To allow investigation of such a regulatory mechanism, the genomic locus encompassing the Punc gene was cloned, characterized, and mapped. Fluorescent in situ hybridization was used to determine the chromosomal location
of the Punc gene of mouse and human. Mouse Punc maps to Chromosome (Chr) 9 in the region D-E1, whereas the human PUNC gene is localized to Chr 15 at 15q22.3-23, a region
known to be syntenic to mouse 9D-E1. The human PUNC gene therefore maps close to a genetic locus that is linked to Bardet-Biedl
Syndrome, an autosomal recessive human disorder. Confirmation for the location of human PUNC was obtained through sequence
relationships between mouse Punc cDNA, human PUNC cDNA, genomic sequence upstream of the murine Punc gene, and human STS markers that had been previously mapped on Chr 15. The STS sequence WI-14920 is in fact derived from
the 3′-untranslated region of the human PUNC gene. WI-14920 had been placed at 228cR from the top of the Chr 15 linkage group,
which provided positional information for the human PUNC gene at high resolution. Thus, this study identifies PUNC as the
gene corresponding to a previously anonymous marker and serves as a basis to investigate its role in genetic disorders.
Received: 8 July 1998 / Accepted: 14 October 1998 相似文献
11.
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
12.
Dystonia musculorum is a hereditary neurodegenerative disease in mice that affects sensory neurons. In an effort to clone the gene responsible for this disorder, we have assembled a genomic contig spanning 75 kb of the dystonia musculorum (dt) locus. Within this genomic contig, we have identified a small restriction fragment that shows evolutionary conservation to rat, hamster, rabbit, and human genomic DNA. Using this mouse sequence, we have cloned the conserved human genomic fragment. Sequence analysis of the mouse and human genomic fragments revealed that they share a sequence similarity of 82% over 175 bp. A panel of human/rodent somatic cell hybrids was used to map the human genomic sequence to Chromosome (chr) 6, and high-resolution in situ hybridization (FISH) allowed it to be sublocalized to 6p12. The human homolog of the mouse Bpag1 gene, a gene tightly linked to the mouse dt gene, also maps to Chr 6. Thus this comparative mapping reveals a new region of conserved synteny between the chromosomes of mouse and human. Mapping the human homolog of the mouse dt gene enables us to initiate linkage studies to identify neurodegenerative disorders that may be caused by mutations in this gene. 相似文献
13.
Focal adhesion kinase (pp125FAK or FAK) is a cytoplasmic protein-tyrosine kinase stimulated in response to cell interactions with extracellular matrix components and by exposure to a variety of agonists, including neuropeptides. FAK lacks Srchomology SH2 and SH3 domains, is highly conserved across species, and may represent the prototype for a tyrosine kinase family involved in novel signal transduction pathways. We have identified sequence variants in the 3 untranslated regions of the focal adhesion kinase gene in mice and used a PCR-based oligonucleotide hybridization assay to map the mouse gene (Fadk) to Chromosome (Chr) 15 distal to the myelocytomatosis protooncogene (Myc). The human homolog (PTK2) has been assigned to human Chr 8 on a panel of somatic hybrid cell lines. On the basis of synteny of mouse and human chromosomal maps, the position of the human PTK2 gene probably corresponds to human Chr 8q24-qter.The nucleotide sequence data reported in this paper have been submitted to the GenBank data library; the accession number is U15088. 相似文献
14.
N. Janicic E. Soliman Z. Pausova M. F. Seldin M. Rivière J. Szpirer C. Szpirer G. N. Hendy 《Mammalian genome》1995,6(11):798-801
The calcium-sensing receptor (CASR), a member of the G-protein coupled receptor family, is expressed in both parathyroid and kidney, and aids these organs in sensing extracellular calcium levels. Inactivating mutations in the CASR gene have been described in familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Activating mutations in the CASR gene have been described in autosomal dominant hypoparathyroidism and familial hypocalcemia. The human CASR gene was mapped to Chromosome (Chr) 3q13.3-21 by fluorescence in situ hybridization (FISH). By somatic cell hybrid analysis, the gene was localized to human Chr 3 (hybridization to other chromosomes was not observed) and rat Chr 11. By interspecific backcross analysis, the Casr gene segregated with D16Mit4 on mouse Chr 16. These findings extend our knowledge of the synteny conservation of human Chr 3, rat Chr 11, and mouse Chr 16. 相似文献
15.
Päivi Pajukanta Jackie S. Bodnar Riitta Sallinen Michael Chu Tuula Airaksinen Qunong Xiao Lawrence W. Castellani Sonal S. Sheth Maija Wessman Aarno Palotie Janet S. Sinsheimer Peter Demant Aldons J. Lusis Leena Peltonen 《Mammalian genome》2001,12(3):238-245
Familial combined hyperlipidemia (FCHL) is a common genetic dyslipidemia predisposing to premature coronary heart disease
(CHD). We previously identified a locus for FCHL on human Chromosome (Chr) 1q21-q23 in 31 Finnish FCHL families. We also mapped
a gene for combined hyperlipidemia (Hyplip1) to a potentially orthologous region of mouse Chr 3 in the HcB-19/Dem mouse model of FCHL. The human FCHL locus was, however, originally mapped about 5 Mb telomeric to the synteny border, the
centromeric part of which is homologous to mouse Chr 3 and the telomeric part to mouse Chr 1. To further localize the human
Hyplip1 homolog and estimate its distance from the peak linkage markers, we fine-mapped the Hyplip1 locus and defined the borders of the region of conserved synteny between human and mouse. This involved establishing a physical
map of a bacterial artificial chromosome (BAC) contig across the Hyplip1 locus and hybridizing a set of BACs to both human and mouse chromosomes by fluorescence in situ hybridization (FISH). We
narrowed the location of the mouse Hyplip1 gene to a 1.5-cM region that is homologous only with human 1q21 and within approximately 5–10 Mb of the peak marker for linkage
to FCHL. FCHL is a complex disorder and this distance may, thus, reflect the well-known problems hampering the mapping of
complex disorders. Further studies identifying and sequencing the Hyplip1 gene will show whether the same gene predisposes to hyperlipidemia in human and mouse.
Received: 9 September 2000 / Accepted: 30 October 2000 相似文献
16.
A novel mouse gene, provisionally named Lx1, has been cloned and sequenced. Lx1 most likely represents the mouse homolog of the rat gene OCT1, which encodes a polyspecific transmembrane transporter that is possibly involved in drug elimination. The LX1 predicted protein
is highly hydrophobic, possesses twelve putative transmembrane domains, and also shares significant homology with members
of the sugar transporter family, particularly the novel liver-specific transporter NLT. Lx1 mRNA is expressed at high levels in mouse liver, kidney, and intestine, and at low levels in the adrenals and in lactating
mammary glands. The Lx1 gene maps very close to the imprinted Igf2r/Mpr300 gene on mouse Chromosome (Chr) 17, in a region that is syntenic to human Chr 6q. Chr 6q has been previously associated with
transient neonatal diabetes mellitus and breast cancer.
Received: 11 March 1996 / Accepted: 5 June 1996 相似文献
17.
Kazuhiro Yoneda Yasuo Moritomo Marika Takami Siro Hirata Yoshio Kikukawa Tetsuo Kunieda 《Mammalian genome》1999,10(6):597-600
A hereditary chondrodysplastic dwarfism caused by an autosomal recessive gene has been reported in a population of Japanese
Brown cattle. Affected calves show an insufficiency of endochondral ossification at the long bones of the limbs. In the present
study, we mapped the locus responsible for the disease (bcd) by linkage analysis, using microsatellite markers and a single paternal half-sib pedigree obtained from commercial herds.
Linkage analysis revealed a significant linkage between the bcd locus and marker loci on the distal region of bovine Chromosome (Chr) 6. The bcd locus was mapped in the interval between microsatellite markers BM9257 and BP7 or BMS511 with a recombination fraction of 0.05 and 0.06, and a lod score of 8.6 and 10.1, respectively. A comparison of genetic maps
between bovine Chr 6 and human Chr 4 or mouse Chr 5 indicates possible candidate genes including FGFR3 and BMP3 genes, which
are responsible for human chondrodysplasias and associated with bone morphogenesis, respectively.
Received: 24 November 1998 / Accepted: 2 February 1999 相似文献
18.
A radiation hybrid map of the RN region in pigs demonstrates conserved gene order compared with the human and mouse genomes 总被引:2,自引:0,他引:2
Annie Robic Virginie Seroude Jin-Tae Jeon Martine Yerle Luc Wasungu Leif Andersson Joël Gellin Denis Milan 《Mammalian genome》1999,10(6):565-568
We recently constructed a 7000-rad porcine whole-genome radiation hybrid (RH) panel with the primary objective of integrating
linkage maps of microsatellites with evolutionary conserved genes into one ordered map. In order to evaluate the resolution
of this RH panel, we have now constructed a radiation hybrid map of the Chromosome (Chr) 15q2.3-q2.6 region containing the
RN gene. This gene has large effects on glycogen content in muscle and meat quality. Ten microsatellites covering a region of
55 centiMorgans and eight genes (AE3, FN1, IGFBP5, INHA, IRS1, PAX3, TNP1, and VIL1) were placed on the Sscr15 RH map. All the genes, except IRS1, were mapped on the RH map between microsatellites located in 15q2.5. The relative order of AE3 and INHA was inverted on the porcine physical map in comparison with the mouse linkage map. The order of other genes already mapped
in the mouse (FN1, IGFBP5, TNP1, VIL1, INHA/AE3, and PAX3) was identical in pigs. We found no clear difference between the gene order on pig Chr 15 and human Chr 2q.
Received: 4 November 1998 / Accepted: 8 February 1999 相似文献
19.
Kira K. Lueders Rosemary W. Elliott Ingo Marenholz Dietmar Mischke Michael DuPree Dean Hamer 《Mammalian genome》1999,10(9):900-905
As a first step in determining whether there are polymorphisms in the nicotinic acetylcholine receptor (nAChR) genes that
are associated with nicotine addiction, we isolated genomic clones of the β2-nAChR genes from human and mouse BAC libraries.
Although cDNA sequences were available for the human gene, only the promoter sequence had been reported for the mouse gene.
We determined the genomic structures by sequencing 12 kb of the human gene and over 7 kb of the mouse gene. While the sizes
of exons in the mouse and human genes are the same, the introns differ in size. Both promoters have a high GC content (60–80%)
proximal to the AUG and share a neural-restrictive silencer element (NRSE), but overall sequence identity is only 72%. Using
a 6-Mb YAC contig of Chr 1, we mapped the human β2-nAChR gene, CHRNB2, to 1q21.3 with the order of markers cen, FLG, IVL,
LOR, CHRNB2, tel. The mouse gene, Acrb2, had previously been mapped to Chr 3 in a region orthologous to human Chr 1. We refined mapping of the mouse gene and other
markers on a radiation hybrid panel of Chr 3 and found the order cen, Acrb2, Lor, Iv1, Flg, tel. Our results indicate that this cluster of markers on human Chr 1 is inverted with respect to its orientation on the
chromosome compared with markers in the orthologous region of mouse Chr 3.
Received: 26 January 1999 / Accepted: 10 May 1999 相似文献
20.
N.I. Barr M. Stewart C. Tsatsanis R. Fulton M. Hu H. Tsujimoto J.C. Neil 《Mammalian genome》1999,10(6):556-559
The fit-1 locus was originally identified as a common insertion site for feline leukemia virus (FeLV) in thymic lymphosarcomas induced
by FeLV-myc recombinant viruses, suggesting that it harbors a gene that cooperates with Myc in T-cell leukemogenesis. We have previously mapped the fit-1 locus to feline Chromosome (Chr) B2. We have now identified conserved sequences that allow the mapping of the murine homolog
using the European Interspecific Backcross (EUCIB). This shows that fit-1 is located on mouse Chr 10, 1cM proximal to Ahi-1, a murine retroviral integration locus that is closely linked to Myb. Moreover, the physical linkage to MYB is maintained in the human genome, as shown by cloning of the human homolog of fit-1 from a Chr 6 cosmid library and a series of overlapping PAC clones. Generation of a contig map around the human homolog
of fit-1 reveals that it is approximately 100-kb upstream of MYB. In addition to fit-1 and Ahi-1, two other common insertion sites, Mis-2 and Mml-1, have also been mapped adjacent to Myb on mouse Chr 10. Previous analysis of tumors carrying insertions at fit-1, Mml-1, Mis-2 and Ahi-1 showed no obvious abnormalities in Myb expression. However, the cluster of viral insertion loci in this region suggests either the presence of a closely linked
activation target or that subtle effects on Myb have been overlooked.
Received: 9 October 1998 / Accepted: 12 January 1999 相似文献