共查询到20条相似文献,搜索用时 15 毫秒
1.
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
2.
Angela M. Murphy David E. MacHugh Stephen D.E. Park Erik Scraggs Chris S. Haley David J. Lynn Maurice P. Boland Michael L. Doherty 《Mammalian genome》2007,18(1):43-52
Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated
that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive
(art/art) Suffolk rams were used as founders for a backcross pedigree of half-sib families segregating the IOA trait. A genome scan
was performed using 187 microsatellite genetic markers and all backcross animals were phenotyped at birth for the presence
and severity of arthrogryposis. Pairwise LOD scores of 1.86, 1.35, and 1.32 were detected for three microsatellites, BM741, JAZ, and RM006, that are located on sheep Chr 5 (OAR5). Additional markers in the region were identified from the genetic linkage map of
BTA7 and by in silico analyses of the draft bovine genome sequence, three of which were informative. Interval mapping of all autosomes produced
an F value of 21.97 (p < 0.01) for a causative locus in the region of OAR5 previously flagged by pairwise linkage analysis. Inspection of the orthologous
region of HSA5 highlighted a previously fine-mapped locus for human arthrogryposis multiplex congenita neurogenic type (AMCN).
A survey of the HSA5 genome sequence identified plausible candidate genes for both IOA and human AMCN. 相似文献
3.
Václav Zídek Alena Musilová Jan Pintíř Miroslava Šimáková Michal Pravenec 《Mammalian genome》1998,9(7):503-505
Testicular weights were studied in the mouse BXD recombinant inbred (RI) strains. These strains were derived from DBA/2J
and C57BL/6J progenitors that differ significantly in their testicular weights (0.224 g ± 0.015 vs. 0.161 g ± 0.03, P < 0.0001).
The heritability of testicular weights was calculated to be 0.53, and the minimum number of responsible effective factors
was estimated to be 5.7. The total genome scanning of the BXD RI strains with over 1000 markers revealed a quantitative trait
locus (QTL) on mouse Chromosome (Chr) 13 near the D13Mit3 marker (LOD score 6.9). This QTL region was designated Twq1 and associated with over 75% of genetic variability.
Received: 23 January 1998 / Accepted: 16 March 1998 相似文献
4.
Jeremy L. Peirce Rachel Derr Jay Shendure Therese Kolata Lee M. Silver 《Mammalian genome》1998,9(12):942-948
C57Bl/6 mice reproducibly prefer to ingest more 10% ethanol in a two-bottle choice paradigm than do DBA/2J mice. In this
paper we report the identification of two new sex-specific alcohol preference (Alcp) loci. Melo and associates (1996) identified two loci: Alcp1, a male-specific locus on Chromosome (Chr) 2, and Alcp2, a female- and cross-specific locus on Chr 11. We have additionally identified Alcp3, a male-specific locus on Chr 3, and Alcp4, a female-specific locus on Chr 1. We have also performed a statistical analysis to exclude the possibility of undiscovered
major alcohol preference loci that are not sex-specific in our backcross paradigm. Our results indicate that alcohol preference
in C57BL/6 mice, as measured in our backcross, is largely controlled in a sex-specific manner.
Received: 15 September 1998 / Accepted: 8 October 1998 相似文献
5.
A number of genes in the human and mouse genomes are subject to genomic imprinting, with selective inactivation of one allele
of a gene in a parent-of-origin specific manner. One of the first imprinted genes identified was the Insulin-like Growth Factor
2 gene (IGF2), which promotes growth of the fetus and is expressed from only the paternal allele in most tissues in both the mouse and
human. The aim of this study was to establish the imprinting status of IGF2 in sheep (Ovis aries). Sheep provide an interesting model to study imprinting, owing to differences in their placental development and the fact
that they have been subject to strong artificial selection for various production traits. We report the identification of
a length polymorphism in the transcribed 3′-untranslated region of the ovine IGF2 gene. This polymorphism was used to map IGF2 to sheep Chromosome (Chr) 21 and demonstrate that IGF2 is indeed imprinted in sheep, being expressed from the paternal allele. We also report that the developmental switch from
imprinted IGF2 expression in the fetal liver to biallelic IGF2 expression in the adult liver, which occurs in the human but not mouse, also occurs in sheep. Differences in male- and female-specific
recombination values reported around the IGF2 locus in the human were also observed around the ovine IGF2 locus. The techniques developed in this study will enable the imprinting status of IGF2 to be assessed in a variety of tissues and stages of development in normal sheep.
Received: 3 October 1998 / Accepted 29 January 1999 相似文献
6.
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
7.
8.
A second-generation linkage map of the sheep genome 总被引:32,自引:0,他引:32
Maurico J. de Gortari Brad A. Freking Rachel P. Cuthbertson Steven M. Kappes John W. Keele Roger T. Stone Kreg A. Leymaster Ken G. Dodds Allan M. Crawford Craig W. Beattie 《Mammalian genome》1998,9(3):204-209
A genetic map of Ovis aries (haploid n = 27) was developed with 519 markers (504 microsatellites) spanning ∼3063 cM in 26 autosomal linkage groups and
127 cM (female specific) of the X Chromosome (Chr). Genotypic data were merged from the IMF flock (Crawford et al., Genetics
140, 703, 1995) and the USDA mapping flock. Seventy-three percent (370/504) of the microsatellite markers on the map are common
to the USDA-ARS MARC cattle linkage map, with 27 of the common markers derived from sheep. The number of common markers per
homologous linkage group ranges from 5 to 22 and spans a total of 2866 cM (sex average) in sheep and 2817 cM in cattle. Marker
order within a linkage group was consistent between the two species with limited exceptions. The reported translocation between
the telomeric end of bovine Chr 9 (BTA 9) and BTA 14 to form ovine Chr 9 is represented by a 15-cM region containing 5 common
markers. The significant genomic conservation of marker order will allow use of linkage maps in both species to facilitate
the search for quantitative trait loci (QTLs) in cattle and sheep.
Received: 20 September 1992 / Accepted: 18 November 1997 相似文献
9.
10.
Claude Szpirer Fadel Tissir Michèle Rivière Pascale Van Vooren Johanna Kela Françoise Lallemand Philippe Gabant Barbara Hoebee Karin Klinga-Levan Göran Levan Josiane Szpirer 《Mammalian genome》1999,10(1):30-34
The rat Chromosome (Chr) 2 harbors several genes controlling tumor growth or development, blood pressure, and non-insulin-dependent
diabetes mellitus. We report that the region (2q1) containing the mammary susceptibility cancer gene Mcs1 also harbors the genes encoding cyclin B1, interleukin 6 signal transducer (gp130), and proprotein convertase 1. We also
generated 13 new anonymous microsatellite markers from Chr 2-sorted DNA. These markers, as well as a microsatellite marker
in the cyclin B1 gene, were genetically mapped in combination with known markers. A cyclin B1-related gene was also cytogenetically
assigned to rat Chr 11q22-q23.
Received: 21 July 1998 / Accepted: 28 August 1998 相似文献
11.
J. -L. Guénet D. Simon-Chazottes M. Gravel K. E. M. Hastings S. Schiaffino 《Mammalian genome》1996,7(1):13-15
We mapped the locations of the genes encoding the slow skeletal muscle, fast skeletal muscle, and cardiac isoforms of troponin
I (Tnni) in the mouse genome by interspecific hybrid backcross analysis of species-specific (C57BL/6 vs Mus spretus) restriction fragment length polymorphisms (RFLPs). The slow skeletal muscle troponin I locus (Tnni1) mapped to Chromosome (Chr) 1. The fast skeletal muscle troponin I locus (Tnni2), mapped to Chr 7, approximately 70 cM from the centromere. The cardiac troponin I locus (Tnni3) also mapped to Chr 7, approximately 5–10 cM from the centromere and unlinked to the fast skeletal muscle troponin I locus.
Thus, the troponin I gene family is dispersed in the mouse genome.
Received: 10 May 1995 / Accepted: 1 September 1995 相似文献
12.
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
13.
I. Lanneluc R. D. Drinkwater J. M. Elsen D. J. S. Hetzel T. C. Nguyen L. R. Piper J. Thimonier B. Harrison J. Gellin 《Mammalian genome》1994,5(1):26-33
Animals from the Booroola line of Australian Merino sheep are characterized by a high ovulation rate that can be attributed to the presence of a codominant allele (Fec
B).The specific function of the gene has not been identified. Effective use of the trait within the sheep breeding industry requires one or more genetic markers that can distinguish between alternative alleles at the locus Fec. With a combination of DNA minisatellite markers and polymorphic protein markers, a cluster of seven minisatellite fragments has been identified as being linked to the Fec gene and to the ovine A blood group locus. The minisatellite fragments have been derived from multilocus probes and hence cannot be used to define the chromosomal location of the Fec gene or to serve as diagnostic markers for Fec. The derivation of cloned single locus markers from the minisatellite fragments will enable finer scale mapping of the Fec and the A blood group locus in sheep. 相似文献
14.
A. J. Griffith G. L. Radice D. L. Burgess D. C. Kohrman G. M. Hansen M. J. Justice K. R. Johnson M. T. Davisson M. H. Meisler 《Mammalian genome》1996,7(6):417-419
The location of three mutations on proximal Chromosome (Chr) 18 was determined by analysis of the offspring of several backcrosses.
The results demonstrate that ataxia and the insertional mutation TgN9257Mm are separated by less than 1 cM and are located
approximately 3 cM from the centromere, while the balding locus is 7 cM more distal. Previous data demonstrated that the twirler
locus also maps within 1 cM of ataxia. The corrected locations will contribute to identification of appropriate candidate
genes for these mutations. Two polymorphic microsatellite markers for proximal Chr 18 are described, D18Umi1 and D18Umi2. The Lama3 locus encoding the α3 subunit of nicein was mapped distal to ataxia and did not recombine with Tg9257.
Received: 19 December 1995 / Accepted: 29 January 1996 相似文献
15.
Thirteen loci physically assigned to sheep Chromosome 2 by cell hybrid analysis and in situ hybridization 总被引:1,自引:0,他引:1
T. E. Broad P. E. Lewis D. J. Burkin A. J. Gleeson M. A. Carpenter C. Jones P. D. Pearce D. W. Maher H. A. Ansari 《Mammalian genome》1995,6(12):862-866
Sheep x hamster cell hybrids containing sheep metacentric Chromosome (Chr) 2 were produced by fusing blood leukocytes from normal sheep with hamster auxotrophic Ade F-minus mutants. Cell clones that were isocitrate dehydrogenase 1 (IDH1) positive were cytogenetically characterized, confirming that they contained sheep Chr 2. The following loci were newly assigned by Southern hybridization to sheep Chr 2: lipoprotein lipase (LPL), glycoprotein-4-beta galactosyltransferase 2 (GGTB2), neurofilament light polypeptide (68 kDa; NEFL), surfactant-associated protein 2 (SFTP2), lymphocyte-specific protein tyrosine kinase (LCK), and nebulin (NEB). These new assignments and the in situ localization of gelsolin (GSN) to sheep Chr 2pter-p24 are consistent with the predicted homology of cattle Chr 8 (U18) with sheep Chr 2p, and of cattle Chr 2 (U17) with sheep 2q. In addition, the assignment by cell hybrid analysis of loci previously mapped to Chr 2 in sheep, viz., cholinergic receptor, nicotinic, delta polypeptide (CHRND), collagen type III alpha 1 (COL3A1), fibronectin 1 (FN1), isocitrate dehydrogenase (IDH1), and villin 1 (VIL1), confirmed the localization of sheep syntenic group U11 to this chromosome. By nutritional selection and complementation of the hamster auxotrophic Ade F mutation, the multifunctional enzyme locus phosphoribosylaminoimidazolecarboxamide formyltransferase (AICAR transformylase)/IMP cyclohydrolase (inosinicase) (provisionally given the symbol PRACFT) has also been newly assigned to sheep Chr 2. This report significantly extends the number of loci physically mapped to sheep Chr 2 and confirms its close homology with cattle Chrs 2 and 8. 相似文献
16.
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
17.
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
18.
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
19.
Comparative mapping of the ovine clpg locus 总被引:3,自引:0,他引:3
Scott C. Fahrenkrug Brad A. Freking Caird E. Rexroad III Kreg A. Leymaster Steven M. Kappes Timothy P.L. Smith 《Mammalian genome》2000,11(10):871-876
We used a comparative mapping approach to identify segments of conserved synteny between human Chromosome 14 (HSA14), bovine
Chromosome 21 (BTA21), and the portion of ovine Chromosome 18 (OAR18) that contains the clpg locus. A bovine radiation hybrid map of the region was constructed with available Type II genetic markers and seven candidate
genes to establish the comparative interval between BTA21 and HSA14. We developed polymorphic microsatellite and SNP markers
associated with five candidate genes and placed them on the ovine and/or bovine genetic maps by multipoint linkage analysis.
Three additional genes were mapped by virtue of their physical linkage to genetically mapped makers. Development of integrated
linkage and physical maps facilitates the selection of positional candidate genes from the gene rich human map. The physically
linked candidate genes PREF-1 and MEG3 map to the interval containing the clpg locus. Comparative biology suggests imprinting of MEG3 and/or the influences of PREF-1 on cellular differentiation, should be examined for their role in the parent-of-origin dependent influence of mutant clpg alleles on sheep muscle characteristics.
Received: 3 February 2000 / Accepted: 19 April 2000 相似文献
20.
Keratin-associated proteins (KAPs) are structural components of wool and variation in them may affect wool characteristics.
In this study, we used PCR-SSCP to analyse the ovine KAP6 family which encodes glycine and tyrosine-rich KAPs. Five unique PCR-SSCP patterns were detected in the 250 sheep investigated.
Between two and five patterns were observed in individual sheep and none with only one pattern was detected. This suggests
the amplicons were heterogeneous and derived from more than one locus. To analyse these heterogeneous PCR amplicons, a sequencing
approach using SSCP to separate individual amplified sequences, was developed. Using this approach, five DNA sequences (A–E)
representing five unique PCR-SSCP patterns were obtained. D was identical to a published ovine KAP6-1 sequence (GenBank accession no. M95719), whereas the others were novel, but the closest homology was with KAP6 sequences from human, sheep, goats and cattle. The five ovine KAP6 sequences could be assigned into three distinct groups. B and D were identical to each other, with the exception of a 57-bp
deletion/insertion and a single nucleotide polymorphism (SNP) in the 3′-UTR region. These appear to be allelic variants of
ovine KAP6-1. A and C could form another group, as they were similar to each other (with only one synonymous SNP), but different to the
other sequences. This group appears to be related to a sheep KAP6 amino acid sequence, and represent allelic variation at
another KAP6 locus (designated KAP6-2). The remaining sequence E did not show high sequence homology with either the KAP6-1 or KAP6-2 sequences, but exhibited homology with a bovine KAP6-3 sequence, with the exception of a deletion/insertion of 30 nucleotides. This suggests that E represents ovine KAP6-3. This sequence was detected in only 11% of the sheep investigated, suggesting either a KAP6-3 null allele, or failure to amplify allleles. These results suggest that ovine KAP6 is a complex gene family, that is not only comprised multiple loci, but that is also polymorphic. 相似文献