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1.
Comparative studies of genes in the pseudoautosomal region (PAR) of human and mouse sex chromosomes have thus far been very
limited. The only comparisons that can presently be made indicate that the PARs of humans and mice are not identical in terms
of gene content. Here we describe additional comparative studies of human pseudoautosomal genes and their mouse homologs.
Using a somatic cell hybrid mapping panel, we have assigned the mouse homolog of the human pseudoautosomal interleukin 3 receptor
alpha subunit (IL3RA) gene to mouse Chromosome (Chr) 14. Attempts to clone the mouse homolog of the human pseudoautosomal
adenine nucleotide translocase-3 (ANT3) gene resulted in the isolation of the murine homologs of the human ANT1 and ANT2 genes.
The mouse Ant1 and Ant2 genes are very similar in sequence to their human homologs, and we have mapped them to mouse Chromosomes (Chrs) (8 and X
respectively) that exhibit conserved synteny with the chromosomes on which the human genes are located. In contrast, the homolog
of ANT3 appears to be either very divergent or absent from the mouse genome. Southern blot analysis of DNA from a variety
of mammalian species shows restricted conservation of human pseudoautosomal genes, a trend that also applies to the two cloned
mouse homologs of these genes and to neighboring human genes in distal Xp22.3. Our observations combined with those of other
workers lead us to propose a model for the evolution of the PAR that includes both rapid sequence evolution and the incremental
reduction in size of the region during mammalian evolution.
Received: 4 May 1995 / Accepted: 21 August 1995 相似文献
2.
The lactoperoxidase (LPO), retinoblastoma (RB1), and -lactalbumin (LALBA) genes have been mapped by fluorescent in situ hybridization respectively to cattle Chromosomes (Chrs) 19, 12, 5; goat Chrs 19, 12, 5; and sheep Chrs 11, 10, 3. The results confirm the homologies among cattle, sheep, and goat chromosomes, previously reported, and provide more information for the comparison between the bovine and human karyotypes and gene maps. 相似文献
3.
On the basis of eight independent quantitative trait loci (QTL) studies of ethanol (alcohol) preference drinking in mice,
a meta-analysis was carried out to examine the replicability of QTLs across studies and to enhance the power of QTL detection
and parameter estimation. To avoid genetic heterogeneity, we analyzed only studies of mapping populations derived from the
C57BL/6 (B6) and DBA/2 (D2) inbred progenitor strains. Because these studies were carried out in five different laboratories,
there were substantial differences in testing procedure, data analysis, and especially in the choice of mapping population
(BXD recombinant inbred strains, F2, backcross, selected lines, or congenic strains). Despite this, we found several QTLs that were sufficiently robust as to
appear consistently across studies given the strengths and weaknesses of the mapping populations employed. These were on Chromosomes
(Chrs) 2 (proximal to mid), 3 (mid to distal), 4 (distal), and 9 (proximal to mid). The P value for each of these QTLs, combined across all applicable studies, ranged from 10−7 to 10−15, with the additive effect of each QTL accounting for 3–5% of the trait variance extrapolated to an F2 population. Two other QTLs on Chrs 1 (distal) and 11 (mid) were less consistent, but still reached overall significance (P < .0001).
Received: 18 April 2001 / Accepted: 25 July 2001 相似文献
4.
Magalie S. Leduc Rachael S. Hageman Qingying Meng Ricardo A. Verdugo Shirng‐Wern Tsaih Gary A. Churchill Beverly Paigen Rong Yuan 《Aging cell》2010,9(5):823-836
The IGF‐1 signaling pathway plays an important role in regulating longevity. To identify the genetic loci and genes that regulate plasma IGF‐1 levels, we intercrossed MRL/MpJ and SM/J, inbred mouse strains that differ in IGF‐1 levels. Quantitative trait loci (QTL) analysis of IGF‐1 levels of these F2 mice detected four QTL on chromosomes (Chrs) 9 (48 Mb), 10 (86 Mb), 15 (18 Mb), and 17 (85 Mb). Haplotype association mapping of IGF‐1 levels in 28 domesticated inbred strains identified three suggestive loci in females on Chrs 2 (13 Mb), 10 (88 Mb), and 17 (28 Mb) and in four males on Chrs 1 (159 Mb), 3 (52 and 58 Mb), and 16 (74 Mb). Except for the QTL on Chr 9 and 16, all loci co‐localized with IGF‐1 QTL previously identified in other mouse crosses. The most significant locus was the QTL on Chr 10, which contains the Igf1 gene and which had a LOD score of 31.8. Haplotype analysis among 28 domesticated inbred strains revealed a major QTL on Chr 10 overlapping with the QTL identified in the F2 mice. This locus showed three major haplotypes; strains with haplotype 1 had significantly lower plasma IGF‐1 and extended longevity (P < 0.05) than strains with haplotype 2 or 3. Bioinformatic analysis, combined with sequencing and expression studies, showed that Igf1 is the most likely QTL gene, but that other genes may also play a role in this strong QTL. 相似文献
5.
Novel immune-type receptors (NITRs) are immunoglobulin-variable (V) domain-containing cell surface proteins that possess characteristic
activating/inhibitory signaling motifs and are expressed in hematopoietic cells. NITRs are encoded by multigene families and
have been identified in bony fish species. A single gene cluster, which encodes 36 NITRs that can be classified into 12 families,
has been mapped to zebrafish chromosome 7. We report herein the presence of a second NITR gene cluster on zebrafish chromosome
14, which is comprised of three genes (nitr13, nitr14a, and nitr14b) representing two additional NITR gene families. Phylogenetic analyses indicate that the V domains encoded by the nitr13 and nitr14 genes are more similar to each other than any other zebrafish NITR suggesting that these genes arose from a tandem gene duplication
event. Similar analyses comparing zebrafish Nitr13 and Nitr14 to NITRs from other fish species indicate that the nitr13 and nitr14 genes are phylogenetically related to the catfish IpNITR13 and IpNITR15 genes. Sequence features of the chromosomal region encoding nitr13 suggest that this gene arose via retrotransposition. 相似文献
6.
Genetic dissection of ``OLETF', a rat model for non-insulin-dependent diabetes mellitus 总被引:3,自引:0,他引:3
Naohide Kanemoto Haretsugu Hishigaki Ayako Miyakita Keiko Oga Shiro Okuno Atsushi Tsuji Toshihisa Takagi Ei-ichi Takahashi Yusuke Nakamura Takeshi K. Watanabe 《Mammalian genome》1998,9(6):419-425
To elucidate the genetic factors underlying non-insulin-dependent diabetes mellitus (NIDDM), we performed genome-wide quantitative
trait locus (QTL) analysis, using the Otsuka Long-Evans Tokushima Fatty (OLETF) rat. The OLETF rat is an excellent animal
model of NIDDM because the features of the disease closely resemble human NIDDM. Genetic dissection with two kinds of F2 intercross
progeny, from matings between the OLETF rat and non-diabetic control rats F344 or BN, allowed us to identify on Chromosome
(Chr) 1 a major QTL associated with features of NIDDM that was common to both crosses. We also mapped two additional significant
loci, on Chrs 7 and 14, in the (OLETF × F344)F2 cross alone, and designated these three loci as Diabetes mellitus, OLETF type Dmo 1, Dmo2 and Dmo3 respectively. With regard to suggestive QTLs, we found loci on Chrs 10, 11, and 16 that were common to both crosses, as well
as loci on Chrs 5 and 12 in the (OLETF × F344)F2 cross and on Chrs 4 and 13 in the (OLETF × BN)F2 cross. Our results showed that NIDDM in the OLETF rat is polygenic and demonstrated that different genetic backgrounds could
affect ``fitness' for QTLs and produce different phenotypic effects from the same locus.
Received: 9 October 1997 / Accepted: 29 January 1998 相似文献
7.
B. Drabent K. Franke C. Bode U. Kosciessa H. Bouterfa H. Hameister D. Doenecke 《Mammalian genome》1995,6(8):505-511
The mammalian H1 histone gene complement consists of at least seven H1 protein isoforms. These include five S-phase-dependent H1 protein subtypes and two more distantly related proteins, which are expressed upon terminal differentiation (H10) or during the pachytene stage of spermatogenesis (H1t). In the past, three replication-dependent murine H1 genes plus the H1
0 and H1t genes have been isolated and characterized. In this report, we describe the sequences of two more H1 genes, and we show that all five murine replication-dependent H1 genes and the H1t gene map to the region A2-3 on Chromosome (Chr) 13. This is in agreement with our previous finding that the human H1 histone gene complement maps to 6p21.3, which corresponds to the A2-3 region on the murine Chr 13. Previous reports have shown that the replication-independent H1
0 genes map to syntenic regions on Chrs 22 (human H10) and 15 (murine H1
0). 相似文献
8.
Rainer Klocke Steven L. Roberds Michael M. Tamkun Monika Gronemeier Andr Augustin Barbara Albrecht Olaf Pongs Harald Jockusch 《Genomics》1993,18(3)
The four Shaker-like subfamilies of Shaker-, Shab-,Shaw-, and Shal-related K+ channels in mammals have been defined on the basis of their sequence homologies to the corresponding Drosophila genes. Using interspecific backcrosses between Mus musculus and Mus spretus, we have chromosomally mapped in the mouse the Shaker-related K+-channel genes Kcna1, Kcna2, Kcna4, Kcna5, and Kcna6; the Shab-related gene Kcnb1; the Shaw-related gene Kcnc4; and the Shal-related gene Kcnd2. The following localizations were determined: Chr 2, cen-Acra-Kcna4-Pax-6-a-Pck-1-Kras-3-Kcnb1 (corresponding human Chrs 11p and 20q, respectively); Chr 3, cen-Hao-2-(Kcna2, Kcnc4)-Amy-1 (human Chr 1); and Chr 6, cen-Cola-2-Met-Kcnd2-Cpa-Tcrb-adr/Clc-1-Hox-1.1-Myk-103-Raf-1-(Tpi-1, Kcna1, Kcna5, Kcna6) (human Chrs 7q and 12p, respectively). Thus, there is a cluster of at least three Shaker-related K+-channel genes on distal mouse Chr 6 and a cluster on Chr 2 that at least consists of one Shaker-related and one Shaw-related gene. The three other K+-channel genes are not linked to each other. The map positions of the different types of K+-channel genes in the mouse are discussed in relation to those of their homologs in man and to hereditary diseases of mouse and man that might involve K+ channels. 相似文献
9.
The porcine genes encoding the immunoglobulin gamma heavy chain (IGHG), cAMP-dependent protein kinase catalytic beta subunit (PRKACB), and transition protein 2 (TNP2) were mapped to Chromosomes (Chrs) 7 q25–q26, 6q31–q33, and 3p13-cent, respectively, by in situ hybridization. Localization of the IGHG gene confirms the assignment of linkage group III to Chr 7. Our results show that the IGHG locus in pigs, similar to the situation in other mammalian species, viz. humans, mouse, cattle, and river buffaloes, is located on the terminal region of the chromosome. The assignment of the PRKACB gene extends the homology observed between porcine Chr 6q and human Chr 1p. Mapping of the TNP2 gene provides the first marker assigned to the p arm of Chr 3 in pigs. The present study contributes to the development of the physical gene map in pigs and also bears significance in terms of comparative gene mapping. 相似文献
10.
-2 adrenergic receptors can be subdivided into three related subtypes which are conserved in humans, rats, and mice. In the mouse, these receptors are encoded by three genes (Adra-2a, Adra-2b, Adra-2c). To gain insight into the evolution of this multigene family and to investigate whether these genes are candidates for previously identified mouse mutations, we have determined the map positions of the Adra-2b and Adra-2c genes. The Adra-2a gene has been previously mapped to mouse Chromosome (Chr) 19 (Oakey et al. Genomics 10, 338–334, 1991). Using segregation among recombinant inbred strains of a single-stranded conformational polymorphism specific for alleles of Adra-2b and Adra-2c, we present map positions for these genes on mouse Chrs 2 and 5, respectively. In the case of Adra-2b, these results have been confirmed by an analysis of somatic cell hybrids. In addition, we generate AKXD recombinant inbred strain distribution patterns for 11 previously defined SSLP microsatellite markers, further refining the haplotype maps for these chromosomes. Finally, several candidate mouse mutations that map close to Adra-2b and Adra-2c are discussed. 相似文献
11.
Previous attempts to identify genes in fish that respond to virus infection or interferon induction have not been particularly
productive. Since these genes are very important in developing strategies to control disease outbreaks in aquaculture, we
began a study of interferon-inducible genes in fish using suppressive subtraction hybridization to construct cDNA libraries
enriched for interferon-inducible genes. Subtraction hybridization libraries were constructed with cDNA obtained from the
kidney, spleen, and liver of Chinook salmon (Oncorhynchus tshawytscha) and staghorn sculpin (Hemilepidotus spinosus) before and after injection with poly IC, a potent interferon inducer. The ``identified' genes in both cDNA libraries corresponded
to previously identified genes of the fish complement system, the interferon-inducible proteins observed in mammalian cells,
and the Vig-1 gene, identified in fish cells after infection with fish rhabdoviruses.
Received June 19, 2001; accepted July 13, 2001 相似文献
12.
Fine mapping of LrSV2, a race-specific adult plant leaf rust resistance gene on wheat chromosome 3BS
M. J. Diéguez M. F. Pergolesi S. M. Velasquez L. Ingala M. López M. Darino E. Paux C. Feuillet F. Sacco 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2014,127(5):1133-1141
Key message
Fine mapping permits the precise positioning of genes within chromosomes, prerequisite for positional cloning that will allow its rational use and the study of the underlying molecular action mechanism.Abstract
Three leaf rust resistance genes were identified in the durable leaf rust resistant Argentinean wheat variety Sinvalocho MA: the seedling resistance gene Lr3 on distal 6BL and two adult plant resistance genes, LrSV1 and LrSV2, on chromosomes 2DS and 3BS, respectively. To develop a high-resolution genetic map for LrSV2, 10 markers were genotyped on 343 F2 individuals from a cross between Sinvalocho MA and Gama6. The closest co-dominant markers on both sides of the gene (3 microsatellites and 2 STMs) were analyzed on 965 additional F2s from the same cross. Microsatellite marker cfb5010 cosegregated with LrSV2 whereas flanking markers were found at 1 cM distal and at 0.3 cM proximal to the gene. SSR markers designed from the sequences of cv Chinese Spring BAC clones spanning the LrSV2 genetic interval were tested on the recombinants, allowing the identification of microsatellite swm13 at 0.15 cM distal to LrSV2. This delimited an interval of 0.45 cM around the gene flanked by the SSR markers swm13 and gwm533 at the subtelomeric end of chromosome 3BS. 相似文献13.
Michal Pravenec Václav Zídek Alena Musilová Miroslava Simáková Vlastimil Kostka Petr Mlejnek Vladimír Kren Drahomíra Krenova Vlasta Bílá Blanka Míková Marie Jáchymová Karel Horký Ludmila Kazdová Elizabeth St. Lezin Theodore W. Kurtz 《Mammalian genome》2002,13(5):253-258
Abnormalities in carbohydrate and lipid metabolism are common in patients with essential hypertension and in the spontaneously
hypertensive rat (SHR). To identify chromosome regions contributing to this clustering of cardiovascular risk factors in the
SHR, we searched for quantitative trait loci (QTL) associated with insulin resistance, glucose intolerance, and dyslipidemia
by using the HXB/BXH recombinant inbred (RI) strains. Analysis of variance in RI strains suggested significant effects of
genetic factors. A genome screening of the RI strains with more than 700 markers revealed QTL significantly associated with
insulin resistance on Chromosomes (Chrs) 3 and 19. The Chr 19 QTL was confirmed by testing a previously derived SHR-19 congenic
strain: transfer of a Chr 19 segment delineated by markers D19Rat57 and D19Mit7 from the Brown Norway (BN/Cr) strain onto the genetic background of the SHR/Ola was associated with decreased insulin and
glucose concentrations and ameliorated insulin resistance at the tissue level. These findings suggest that closely linked
genes on Chr 19, or perhaps even a single gene with pleiotropic effects, influence the clustering of metabolic disturbances
in the SHR-BN model. 相似文献
14.
15.
Tomasz Michal Golas Anne Sikkema Jack Gros Richard M. C. Feron Ronald G. van den Berg Gerard M. van der Weerden Celestina Mariani J. J. H. M. Allefs 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》2010,120(4):797-808
Initial screening of 14 Solanum dulcamara accessions enabled the identification of individuals resistant and susceptible to Phytophthora infestans. Crosses between contrasting genotypes resulted in three F2–BC1 populations segregating for resistance to late blight in a laboratory assay and under field conditions. Genetic profiling
of one of these populations using 128 AFLP primers generated three markers linked to the resistant phenotype. Blast analysis
of the sequenced markers resulted in a plausible gene position on the distal end of the long arm of chromosome 9 that could
be confirmed by CAPS markers. Thus, we describe a first resistant gene, named Rpi-dlc1, from S. dulcamara, a Solanum species native to Europe. In addition, one population was tested for broadness of resistance responses using a set of seven
additional P. infestans isolates, varying in virulence. This indicated the possible presence of additional Rpi genes. 相似文献
16.
17.
Methylation status of ribosomal RNA gene clusters in the flow-sorted human acrocentric chromosomes 总被引:2,自引:0,他引:2
Kazuhiko Kawasaki Shinsei Minoshima Jun Kudoh Ryuichi Fukuyama Nobuyoshi Shimizu 《Mammalian genome》1992,3(3):173-178
Southern blot analysis of the human acrocentric chromosomes that were flow-sorted from B-lymphoblastoid cell line GM130B revealed that the sensitivity of the ribosomal RNA (rDNA) gene clusters to the restriction enzyme NotI differs among these rDNA-containing chromosomes: the rDNA clusters of Chromosomes (Chr) 13, 14, and 15 are much more sensitive to NotI digestion than those of Chrs 21 and 22 in this particular cell line. Detailed analysis by use of methylation-sensitive enzymes HpaII and HhaI and methylation-insensitive enzyme MspI confirmed the significant variation in the methylation status of rDNA clusters among these chromosomes. Quantitative analysis by fluorescent in situ hybridization (FISH) indicated that copy number of rDNA varies among individual chromosomes, but the average copy number in the acrocentric Chrs 21 and 22 is significantly greater than that of the Chrs 13, 14, and 15 in GM130B cells. Similar analysis reveals that the methylation status of rDNA clusters in another B-lymphoblastoid cell line GM131 was different from that of GM130B. These data together indicate that the copy number and methylation patterns of rDNA clusters differ among individual acrocentric chromosomes in a given cell line, and they are different among cell lines. 相似文献
18.
Kenneth R. Johnson Sue A. Cook Patricia Ward-Bailey Michael Bustin Muriel T. Davisson 《Mammalian genome》1993,4(2):83-89
HMG-17 is an abundant, nonhistone chromosomal protein that binds preferentially to nucleosomal core particles of mammalian chromatin. The human gene for HMG-17 has been localized to Chromosome (Chr) 1p, but the murine gene has not been previously mapped. Here we identify the murine functional gene, Hmg17, from among more than 25 related sequences (probably processed pseudogenes) and show that it is located on mouse Chr 4, in a region known to have conserved linkage relationships with human Chr 1p. We also report the map locations of 20 additional Hmg17-related sequences on mouse Chrs 1, 2, 3, 5, 7, 8, 9, 13, 15, 16, 17, 18, and X. The multiple, dispersed members of the Hmg17 multigene family can be detected efficiently with a single cDNA probe and provide useful markers for genetic mapping studies in mice. 相似文献
19.
A genome-wide scan for loci linked to forearm bone mineral density 总被引:17,自引:0,他引:17
Tianhua Niu Changzhong Chen Heather Cordell Jianhua Yang Binyan Wang Zhaoxi Wang Zhian Fang Nicholas J. Schork Clifford J. Rosen X. Xu 《Human genetics》1999,104(3):226-233
Osteoporosis is a chronic disorder characterized by low bone mass and fragility fractures. It affects more than 25 million
men and women in the United States alone. Although several candidate genes, such as the vitamin-D-receptor gene or the estrogen-receptor
gene, have been suggested in the pathogenesis of osteoporosis, the genetic dissection of this disorder remains a daunting
task. To search systematically for chromosomal regions containing genes that regulate bone mineral density (BMD), we scanned
the entire autosomal genome by using 367 polymorphic markers among 218 individuals (153 sibpairs) from 96 nuclear families
collected from three townships of Anqing, China. In these 96 families, DNA samples from both parents were available for 82
(85.4%) families. By using age- and gender-adjusted forearm BMD measurements, a peak on chromosome 2 near D2S2141, D2S1400, and D2S405, a region previously linked to spinal BMD, showed evidence of linkage to both proximal and distal forearm BMD (multipoint
LOD=2.15 and 2.14 for proximal and distal forearm BMD, respectively). One region on chromosome 13 (multipoint LOD=1.67) in
the proximity of D13S788 and D13S800 showed evidence of linkage to distal forearm BMD only. Possible candidate genes included CALM2 (calmodulin 2) at 2p21.3-p21.1, a putative STK (serine/threonine kinase) at 2p23–24, POMC (pro-opiomelanocortin) at 2p23.3, and COL4A1 and COL4A2 (collagen IV alpha-1 and alpha-2 subunits) at 13q34. Because of the limited sample size, the suggestive evidence of linkage
of this study should be considered as tentative and needs to be replicated in other larger populations.
Received: 19 November 1998 / Accepted: 22 January 1999 相似文献
20.
Quinine (QN) remains effective against Plasmodium falciparum, but its decreasing efficacy is documented from different continents. Multiple genes are likely to contribute to the evolution of QN resistance. To locate genes contributing to QN response variation, we have searched a P. falciparum genetic cross for quantitative trait loci (QTL). Results identify additive QTL in segments of chromosomes (Chrs) 13, 7 and 5, and pairwise effects from two additional loci of Chrs 9 and 6 that interact, respectively, with the QTL of Chrs 13 and 7. The mapped segments of Chrs 7 and 5 contain pfcrt, the determinant of chloroquine resistance (CQR), and pfmdr1, a gene known to affect QN responses. Association of pfcrt with a QTL of QN resistance supports anecdotal evidence for an evolutionary relationship between CQR and reduced QN sensitivity. The Chr 13 segment contains several candidate genes, one of which (pfnhe-1) encodes a putative Na(+)/H(+) exchanger. A repeat polymorphism in pfnhe-1 shows significant association with low QN response in a collection of P. falciparum strains from Asia, Africa and Central and South America. Dissection of the genes and modifiers involved in QN response will require experimental strategies that can evaluate multiple genes from different chromosomes in combination. 相似文献