ISSN:1424-8581    

DOI:10.1159/000134308

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134309

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134310

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The human osmoregulatory Na+/myo-inositol co-transporter gene (SLC5A3) was recently cloned and localized to the region of 21q22. Fine mapping of this gene was accomplished by identifying YAC clones that contain SLC5A3 and utilizing known STS markers for 21q22.1 and 21q22.2 sub-bands that map to the positive YAC clones. Two bacteriophage P1 clones containing the SLC5A3 gene gave a positive PCR product when screened with the 21q22.1 marker VN02, an expressed sequence tag (EST00541). Through DNA sequence analysis, it was determined that this STS marker is part of the 3’ untranslated region of the SLC5A3 gen

ISSN:1424-8581    

DOI:10.1159/000134311

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Thromboxane plays physiological and pathophysiological roles in many tissues. Recently, we cloned a cDNA for rat kidney thromboxane receptor (Tbxa2r) and showed that Tbxa2r is expressed in the renal glomerulus, vasculature, and transitional cell epithelium of renal pelvis. Here, we map the gene for this receptor (Tbxa2r) to rat chromosome 7q11 by fluorescence in situ hybridization.

ISSN:1424-8581    

DOI:10.1159/000134312

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

In a previous study on a large pedigree from a genetically isolated population in the Netherlands, we localized a gene for autosomal recessive retinitis pigmentosa with para-arteriolar preservation of the retinal pigment epithelium (PPRPE) on the long arm of chromosome 1. In this study, we present an integrated genetic map of the target region. The resulting genetic order of the markers was used to construct haplotypes and to screen for key-recombinants in the pedigree. The obligate RP12 region was reduced from 16 cM to 5 cM between the markers D1S533 and CACNLl A3. The CACNL1A3 and phosducin (PDC) genes were placed outside the candidate gene region, thereby excluding the involvement of these genes in retinitis pigmentosa with PPRPE. Our data result in the following order of the markers and genes in the region 1q31→q32.1: cen–DlS158–(DlS238–DlS422VPDC–D1S533–RP12/(F13B–D1S413) –CACNL1A3–D1S477

ISSN:1424-8581    

DOI:10.1159/000134313

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

A cluster of long-range repeats (LRRs) with a repeat size of roughly 100 kb is part of band D of chromosome 1 of the house mouse, Mus musculus. The cluster is cytogenetically polymorphic: it is either C-band negative or C-band positive. Our results show that the differential staining behavior depends on the LRR copy number and not on differences in DNA composition. There is a threshold between 105 and 175 LRR copies per haploid genome; clusters with lower copy numbers stain C-band negative, whereas those with higher copy numbers are C-band positive. Above this threshold, the size of the C-band is linearly correlated with the LRR copy number. The results imply that sequences capable of forming heterochromatin may be dispersed throughout the genome but are not recognized as such by cytogenetic techniques, unless they reach the threshold amount and concentration.

ISSN:1424-8581    

DOI:10.1159/000134314

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Karyotypic homology in relation to human chromosome 9 (HSA 9) was studied through comparative mapping of the immunoglobulin-processed pseudogene Cε3 (IGHEP2) in primates. IGHEP2, which has been mapped to 9p24.2→p24.1 in the human genome, was assigned to PTR 11 q34 (common chimpanzee), PPA llq34 (pygmy chimpanzee), PPY 13q16 (orangutan), HLA 8qter (white-handed gibbon), HAG 8qter (agile gibbon), and MFU 14q22 (Japanese macaque) by fluorescence in situ hybridization. To verify the breakpoints of presumed pericentric inversions on the ancestral great ape chromosomes, three DNA markers on HSA 9, cC19–37 (9q22.1→q22.2), cC19–135 (9q22.32→q22.33), and cC19–208 (9pl3.3→p13.2), were also assigned to PTR/PPA 11p11 (cC19–37 and 135), PTR/PPA 11q22 (cC19–208), PPY 13q22 (cC19–37 and 135), and PPY 13q12 (cC19–208). These data more clearly define the position of the breakpoints of pericentric inversions that occurred in the human-chimp ancestral and chimpanzee ancestral chromosomes and support the hypothesis of HSA 9 genesis previously derived from banding analyses of H

ISSN:1424-8581    

DOI:10.1159/000134315

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

FcRn is an Fc receptor that structurally resembles the major histocompatibility complex class I molecule. In this study, we isolated the human gene encoding the heavy chain of FcRn (FCGRT) and mapped it by fluorescence in situ hybridization to chromosome band 19q13.3. Thus, like its mouse counterpart, the human FCGRT gene is located outside the major histocompatibility complex.

ISSN:1424-8581    

DOI:10.1159/000134316

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Tryptophanyl-tRNA synthetase catalyzes the aminoacylation of tRNAtrp with tryptophan, an essential function in the cell’s protein synthesis machinery. It has been shown that tryptophanyl-tRNA synthetase is induced by interferon, and this has led to hypotheses about other possible functions of tryptophanyl-tRNA synthetase. We have mapped a cDNA probe of the tryptophanyl-tRNA synthetase gene (WARS) by a combination of somatic cell hybrid analysis, fluorescence in situ hybridization (FISH), and linkage analysis. Both FISH and linkage analysis independently supported a more distal position of WARS than had been previously reported. FISH mapping indicated a most likely location at 14q32.31. Linkage analysis was based on the 40 reference families from the CEPH collaboration and resulted in a 13-point map, placing WARS, with odds of more than 1,000:1, within an area of ∼10 cM arid, with odds of 198:1, in an ∼ 6 cM interval between pCMM101 and D14S27. The study provides additional integration of the physical and genetic maps of the distal part of 14q, as well as genetic tools enabling a more complete understanding of the function of tryptophanyl-tRNA synthetase, especially with regard to the cryptic inducibility of inter

ISSN:1424-8581    

DOI:10.1159/000134317

出版商:S. Karger AG    

年代:1996

数据来源: Karger