共查询到20条相似文献,搜索用时 46 毫秒
1.
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
2.
3.
Lindy S. Klaff George Koike Jianjie Jiang Yanling Wang Sabine Bieg Anna Pettersson Eric Lander Howard Jacob Åke Lernmark 《Mammalian genome》1999,10(9):883-887
The genetic etiology of Type 1 (insulin-dependent) diabetes mellitus is complicated by the apparent presence of several diabetes
susceptibility genetic regions. Type 1 diabetes in the inbred BioBreeding (BB) rat closely resembles the human disorder and
was previously shown to involve two genes: the lymphopenia (lyp) region on Chromosome (Chr) 4 and RT1
u
in the major histocompatibility complex (MHC) on Chr 20. In addition, a segregation analysis of an F2 intercross between the diabetes-prone congenic BB DR
lyp/lyp,u/u
and F344+/+,
lv/lv
rats indicated that at least one more genetic factor was responsible for Type 1 diabetes. In this study, we generated F2N2 progeny in a cross between non-diabetic F2(DR
lyp/lyp,u/u
× F344)
lyp/lyp,u/u
and diabetic DR
lyp/lyp,u/u
rats. In a subsequent total genome scan, a third factor was mapped to the 21.3-cM region on Chr 2 between D2Mit14 and D2Mit15 (peak LOD score 4.7 with 67% penetrance). Interestingly, the homozygosity of the BB allele (b/b) for the Chr 2 region was significantly associated with a greater weight reduction after fasting than the homozygosity of
the F344 allele (f/f, p < 0.008). In conclusion, the development of Type 1 diabetes in the congenic DR
lyp/lyp
rat is controlled by at least three genes: lymphopenia, MHC, and a third factor that may play a role in metabolism and body
weight regulation.
Received: December 1998 / Accepted: 10 May 1999 相似文献
4.
Quantitative trait loci (QTLs) affecting body weight were investigated in the backcross population derived from nondiabetic
BB/OK and spontaneously hypertensive rat (SHR) strains. The F1 hybrids were backcrossed onto SHR rats, and QTL analysis was performed separately with the resulting backcross populations
for each sex on Chromosomes (Chrs) 1, 3, 4, 10, 13, and 18. The body weight was determined at the age of 14 weeks, and the
statistical analysis was performed with MAPMAKER/QTL 1.1b computer program. According to the stringent threshold for a lod
score of 3.0, markers on Chr 1 were found to be linked with body weight. The QTL with a peak lod score (5.1) on Chr 1 for
a male population was located within markers Igf2 and D1Mgh12. In contrast, in the female population the body weight affecting QTL (lod = 5.7) on Chr 1 was located between the D1Mit3 and Lsn markers. The existence of QTLs on Chr 1 affecting body weight in the male population was confirmed by congenic BB.Sa rats,
carrying chromosomal region of SHR (Sa-Igf2) on the genetic background of BB rat.
Received: 14 July 1997 / Accepted: 22 December 1997 相似文献
5.
Michael C. Rule Raye J. Mutcherson II Andrew D. Foss Tien K.-X. Nguyen Kenute A. Myrie Thomas R. King 《Mammalian genome》1999,10(5):447-450
The recessive male sterility and histoincompatibility (mshi) mutation in the mouse generates pleiotropic effects on graft transplantation and male reproduction. Previous analysis of
backcross mice typed for mshi either by testicular morphology or by allograft rejection has located each trait to a 20-cM region on proximal mouse Chr
10. Here we present the microsatellite polymorphism analysis of a new 276-member intraspecific backcross panel—including a
set of 135 males typed for sterility and histoincompatibility—that places both features controlled by mshi within a 1.7-cM interval between markers D10Mit51/168/212 and D10Mit213. In addition, this analysis has allowed an explicit test of a two-gene model for the mshi locus and has provided a measurement of the penetrance of the mshi-generated histogenic phenotype in both male (88.4 ± 3.9%) and female (91.0 ± 3.5%) mutants. The fine-structure map presented
should facilitate a chromosome walk across this region and, ultimately, the molecular identification of the gene or genes
affected by this interesting mutation.
Received: 28 August 1998 / Accepted 18 December 1998 相似文献
6.
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
7.
Huacheng C. Ying Belén Hurlé Yunxia Wang Barbara A. Bohne Mary K. Wuerffel David M. Ornitz 《Mammalian genome》1999,10(6):544-548
The ability to sense gravity is enhanced by an extracellular structure that overlies the macular sensory epithelium. This
complex consists of high density particles, otoconia, embedded within a gelatinous membrane. The tilted mouse specifically
lacks otoconia, yet has no other detectable anatomic lesions. Furthermore, the penetrance of the tilted phenotype is nearly
100%. This mouse provides a model to identify genes that are involved in the development and function of vestibular otoconia.
Using SSLP markers, we have mapped the tilted (tlt) gene on mouse Chromosome (Chr) 5 between D5Mit421 and D5Mit353/D5Mit128/D5Mit266/D5Mit267 by analysis of the progeny of an intersubspecific F2 intercross. We also mapped the fibroblast growth factor receptor 3 (Fgfr3) gene, a potential candidate for tlt, and the Huntington's disease homolog (Hdh) gene to D5Mit268, approximately 4.3 centiMorgans (cM) from the tilted locus. This study excludes both Fgfr3 and Hdh as candidate genes for tlt and identifies closely linked microsatellite markers that will be useful for the positional cloning of tlt.
Received: 17 November 1998 / Accepted: 1 February 1999 相似文献
8.
Shoichi Matsukuma Masaaki Kondo Mitsuyo Yoshihara Miyuki Matsuda Tadashi Utakoji Shizuyo Sutou 《Mammalian genome》1999,10(1):1-5
A line of transgenic mouse T604 transmitted a transgene to progeny together with a set of chromosomes with a reciprocal translocation.
The transgene was integrated at a single site in the translocated chromosomes, as revealed by fluorescence in situ hybridization.
The transgenic hemizygous males, also heterozygous for the translocation of chromosomes, showed apparently normal spermatogenesis,
while the males homozygous for the transgene as well as for the translocated chromosomes showed a defect in spermatogenesis.
Considering that the genetic rearrangement by either insertion of the transgene or the chromosome translocation in the T604
mouse line might have caused a recessive mutation in a gene indispensable for spermatogenesis, we have mapped the transgene
integration site and the translocation breakpoints in mouse chromosomes. Linkage analysis with SSLP markers showed that the
loci for the transgene and the translocation breakpoints were closely located to D5Mit24 on Chromosome (Chr) 5, and to a region between D19Mit19 and D19Jpk2 on Chr 19. Mea2 gene, mapped only 2 cM from D5Mit24 and known to show male-specific enhanced expression in the testis, was analyzed as a candidate for the gene disrupted in
T604 transgenic mice. Southern blot analysis revealed that Mea2 gene was indeed disrupted in T604 mice, and Northern blot analysis of the testis RNA showed that the expression of Mea2 was annihilated in the testis of T604 transgenic homozygotes.
Received: 8 July 1998 / Accepted: 23 September 1998 相似文献
9.
Although the phenomenon of innate resistance to flaviviruses in mice was recognized many years ago, it was only recently that the genetic locus (Flv) controlling this resistance was mapped to mouse Chromosome (Chr) 5. Here we report the fine mapping of the Flv locus, using 12 microsatellite markers which have recently been developed for mouse Chr 5. The new markers were genotyped in 325 backcross mice of both (C3H/HeJxC3H/ RV)F1xC3H/HeJ and (BALB/cxC3H/RV)F1xBALB/c backgrounds, relative to Flv. The composite genetic map that has been constructed identifies three novel microsatellite loci, D5Mit68, D5Mit159, and D5Mit242, tightly linked to the Flv locus. One of those loci, D5Mit159, showed no recombinations with Flv in any of the backcross mice analyzed, indicating tight linkage (<0.3 cM). The other two, D5Mit68 and D5Mit242, exhibited two and one recombinations with Flv (0.6 and 0.3 cM) respectively, defining the proximal and distal boundaries of a 0.9-cM segment around this locus. The proximal flanking marker, D5Mit68, maps to a segment on mouse Chr 5 homologous to human Chr 4. This, together with the previous data produced by our group, locates Flv to a region on mouse Chr 5 carrying segments that are conserved on either human Chr 4, 12, or 7, but present knowledge does not allow precise identification of the syntenic element. 相似文献
10.
We describe the genetic mapping of hyperphenylalaninemia 2 (hph2), a recessive mutation in the mouse that causes deficient amino acid transport similar to Hartnup Disorder, a human genetic
amino acid transport disorder. The hph2 locus was mapped in three separate crosses to identify candidate genes for hph2 and a region of homology in the human genome where we propose the Hartnup Disorder gene might lie. The mutation maps to mouse
Chromosome (Chr) 7 distal of the simple sequence length polymorphism (SSLP) marker D7Mit140 and does not recombine with D7Nds4, an SSLP marker in the fibroblast growth factor 3 (Fgf3) gene. Unexpectedly, the mutant chromosome affects recombination frequency in the D7Mit12 to D7Nds4 interval.
Received: 16 May 1996 / Accepted: 25 September 1996 相似文献
11.
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
12.
E. A. Goldmuntz E. F. Remmers Y. Du H. Zha P. Mathern L. J. Crofford R. L. Wilder 《Mammalian genome》1995,6(7):459-463
Sixteen polymorphic markers, including markers for eight new loci, forming three linkage groups, were assigned to rat Chromosome (Chr) 4 by linkage analysis of the progeny of an F2 intercross of Fischer (F344/N) and Lewis (LEW/N) inbred rats. One gene, Igk, was mapped by restriction fragment length polymorphism (RFLP) analysis. One marker for Tcrb was identified by the polymorphic insertion of a repetitive LINE element. The remaining 14 markers contained polymorphic simple sequence repeats (SSRs). Ten were identified in genes (Tgfa, Npy, Prss1, Prss2, Aldr1, Iapp, Prp, Eno2, Cacnlla1, and Il6), one was identified in a sequence related to a gene (Egr4l1), and three were identified in anonymous DNA segments. The SSR markers were highly polymorphic in 16 inbred rat strains. These markers expand the genetic map of the rat and should be useful in future genetic studies of inbred rats. 相似文献
13.
An autosomal recessive deafness mutant was discovered in our colony of Zucker (ZUC) rats. These mutants behave like shaker-waltzer
deafness mutants, and their inner ear pathology classifies them among neuroepithelial degeneration type of deafness mutants.
To determine whether this rat deafness mutation (−) defines a unique locus or one that has been previously described, we mapped
its chromosomal location. F2 progeny of (Pbrc:ZUC × BN/Crl) A/a B/b
H/h+/− F1 rats were scored for coat color and behavioral phenotypes. Segregation analysis indicated that the deafness locus might be
loosely linked with B on rat Chromosome (Chr) 5 (RNO5). Therefore, 40 −/− rats were scored for BN and ZUC alleles at four additional loci, D5Mit11, D5Mit13, Oprd1, and Gnb1, known to map to RNO5 or its homolog, mouse Chr 4 (MMU4). Linkage analysis established the gene order (cM distance) as D5Mit11–(19.3)–B–(17.9)–D5Mit13–(19.2)–Oprd1–(21.5) − (1.2) Gnb1, placing the deafness locus on distal RNO5. The position of the deafness locus on RNO5 is similar to that ofjerker (je) on MMU4; the phenotypes and patterns of inheritance of the deafness mutation and je are also similar. It seems likely that the mutation affects the rat homolog of je. The rat deafness locus should, therefore, be named jerker and assigned the gene symbol Je.
Received: 13 June 1995 / Accepted: 4 January 1996 相似文献
14.
The positions of 12 simple sequence repeat markers relative to reference loci on mouse Chromosome 16
The genetic map positions of 12 simple sequence repeat (SSR) markers spanning mouse Chromosome (Chr) 16 were determined relative to reference markers on that chromosome. Interval mapping data were obtained with a panel of DNAs from two intersubspecific backcrosses. All but one of the markers were typed by use of nonradioactive polymerase chain reaction (PCR) products analyzed on agarose gels. The marker order was determined to be Prm-1, D16Mit9, Igl-1, D16Mit29, D16Mit1/D16Mit2, Smst, D16Mit4, D16Mit11, Gap43, D16Mit14, D16Mit30, D16Mit5, Pit-1, D16Mit27, D16H21S16 (formerly D21S16h), D16Mit19, App, D16Mit7, Sod-1. Two of these markers mapped to the known human Chr 21 (HSA21)/Chr 16 conserved linkage group. Nine additional SSR markers could not be typed because they were not polymorophic (four markers), did not amplify MOLD/Rk DNA (three markers), or failed to give PCR products under a range of conditions (two markers). A subset of the most robust SSRs provide a useful marker set for the analysis of previously unmapped crosses. 相似文献
15.
Localization of the locus causing Spider Lamb Syndrome to the distal end of ovine Chromosome 6 总被引:7,自引:0,他引:7
N.E. Cockett T.L. Shay J.E. Beever D. Nielsen J. Albretsen M. Georges K. Peterson A. Stephens W. Vernon O. Timofeevskaia S. South J. Mork A. Maciulis T.D. Bunch 《Mammalian genome》1999,10(1):35-38
Spider Lamb Syndrome (SLS) is a semi-lethal congenital disorder, causing severe skeletal abnormalities in sheep. The syndrome
has now been disseminated into several sheep breeds in the United States, Canada, and Australia. The mode of inheritance for
SLS is autosomal recessive, making the identification and culling of carrier animals difficult due to their normal phenotype.
Two large pedigrees segregating for the SLS mutation were established, and a genome scan with genetic markers from previously
published genome maps of cattle and sheep was used to map the locus causing SLS. Genetic linkage between SLS and several microsatellite
markers, OarJMP8, McM214, OarJMP12, and BL1038, was detected, thereby mapping the SLS locus to the telomeric end of ovine Chromosome (Chr) 6. Alignment of ovine Chr 6 with
its evolutionary ortholog, human Chr 4, revealed a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3).
Received: 10 June 1998 / Accepted: 23 September 1998 相似文献
16.
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
17.
Seventy-six novel microsatellite markers with various simple sequence repeat (SSR) motifs are reported in this paper. They
were generated on the basis of non-radioactive library screening procedures from flow-sorted rat Chromosome (Chr) 5-specific
DNA, and were mapped in three rat backcross populations. Fifty-four of these markers mapped to Chr 5, while the other 22 mapped
to other chromosomes of the rat genome. The marker D3Uwm8 is a new microsatellite marker for the rat syndecan 4 (ryudocan) gene. A genotyping protocol based on agarose gel electrophoresis
is also provided in this paper.
Received: 17 December 1998 / Accepted: 17 February 1999 相似文献
18.
Johannes Becker-Follmann Andreas Gaa Elke Baùsch Ernst Natt Gerd Scherer Otto von Deimling 《Mammalian genome》1997,8(3):172-177
We have performed a high-resolution linkage analysis for the conserved segment on distal mouse Chromosome (Chr) 8 that is
homologous to human Chr 16q. The interspecific backcross used involved M. m. molossinus and an M. m. domesticus line congenic for an M. spretus segment from Chr 8 flanked by phenotypic markers Os (oligosyndactyly) and e, a coat colormarker. From a total of 682 N2 progeny, the 191 animals revealing a recombination event between these phenotypic markers were typed for 23 internal loci.
The following locus order with distances in cM was obtained: (centromere)–Os–4.1–Mmp2–0.2–Ces1,Es1, Es22–1.2–Mt1,D8Mit15–2.2–Got2, D8Mit11–3.7–Es30–0.3–Es2, Es7–0.9–Ctra1,Lcat–0.3–Cdh1, Cadp, Nmor1, D8Mit12–0.2–Mov34–2.5–Hp,Tat–0.2–Zfp4–1.6–Zfp1,Ctrb–10.9–e. In a separate interspecific cross involving 62 meioses, Dpep1 was mapped together with Aprt and Cdh3 at 12.9 cM distal to Hp, Tat, to the vicinity of e. Our data give locus order for markers not previously resolved, add Mmp2 and Dpep1 as new markers on mouse Chr 8, and indicate that Ctra1 is the mouse homolog for human CTRL. Comparison of the order of 17 mouse loci with that of their human homologs reveals that
locus order is well conserved and that the conserved segment in the human apparently spans the whole long arm of Chr 16.
Received: 30 July 1996 / Accepted: 15 November 1996 相似文献
19.
A region on rat Chromosome (Chr) 2 of the Dahl salt-sensitive rat (S) was shown previously to contain a quantitative trait
locus (QTL) for blood pressure (BP). This was achieved first by linkage, followed by the use of congenic strains. A congenic
strain, designated S.MNS-D2Mit6/Adh, contained a segment of Chr 2 from the Milan Normotensive (MNS) rat in the S genetic background. Since the region containing
the QTL was roughly 80 cM in size, a further reduction was needed towards the positional or candidate gene cloning. Currently,
two congenic substrains were made from the original strain S.MNS-D2Mit6/Adh. One of these two substrains showed a BP-lowering effect, whereas the other substrain did not. Deducing the segment not shared
in the two substrains, the BP QTL has to be present in a chromosome region of roughly 5.7 cM between the marker D2Rat303 and the locus for the neutroendopeptidase gene (Nep). Nep is not included within the segment. This region does not seem to contain any candidate genes well known for the BP control.
Thus, the final identification of the QTL will most likely lead to the discovery of a brand new gene for the BP regulation.
Received: 14 December 2000 / Accepted: 18 January 2001 相似文献
20.
The grey-lethal (gl) mouse is the most relevant animal model for recessive osteopetrosis, a genetic defect affecting bone resorption. To localize
the gl gene, two novel backcrosses between the gl mutant strain GL/Le dl
J
+/+gl and with the Mus spretus or the Mus m. molossinus have been generated and typed with 19 DNA markers representative of genes or microsatellites. In the Mus m. molossinus backcross, the gl locus cosegregates with the D10Mit108,109,184,193,254,255 markers within a 1 centimorgan genetic interval between the markers (D10Mit54,55,215,Cd24a) and D10Mit148. Our results have also eliminated all the five candidate genes previously localized to this region (Braf-rs1, Fyn, Cd24a, Ros1, and Gja1). On the Mus spretus background, segregation distortion due to a ∼threefold differential survival resulted in a severe deficit in gl/gl animals, indicating the presence of modifier genes. We have also characterized nine cosegregating microsatellite markers
closely linked to gl as defined by their specific polymorphisms for the Chromosome (Chr) 10 harboring the gl mutation. Screening of several mouse inbred strains for these polymorphic markers revealed an identical pattern between gl and 129/SvEms, suggesting that the gl mutation arose on this genetic background. The linkage between this polymorphic region and the gl locus provides an entry point to produce a physical map to isolate the gl gene.
Received: 23 June 1998 / Accepted: 17 November 1998 相似文献