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Query: UMLS:C0393754 (HSA)
 2,996 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The chromosomal localization of the gene for retinoblastoma (RB1), which has been mapped to band 13q14 in man, was studied by in situ hybridization on metaphase chromosomes of selected primates, including Pithecia pithecia, Macaca sylvana, and Cercopithecus aethiops tantalus. The results allowed us to determine the position of the bands homologous to human chromosome band 13q14 in these species. Hybridization analysis corroborated the results of previous studies that defined the chromosome homologous to human chromosome 13 (HSA 13) in these species. By comparing RB1 localizations and banding patterns, it is shown that the rearrangement separating HSA 13 from its homologous chromosome in Cercopithecidae is not a pericentric inversion, as suggested by earlier studies. Since the banding pattern and RB1 localization are not changed, the modification of the centromeric index is explained by a centromeric shift or by two inversions, one pericentric and one paracentric.
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PMID:Comparative RB1 gene mapping in Homo sapiens, Pithecia pithecia, Macaca sylvana, and Cercopithecus aethiops tantalus. 856 44

Phylogenetic divergence of the members of the Pongidae family has been based on genetic evidence. The terminal repeat array (T2AG3) has lately been considered as an additional basis to analyze genomes of highly related species. The recent isolation of subtelomeric DNA probes specific for human (HSA) chromosomes 7q and 14q has prompted us to cross-hybridize them to the chromosomes of the chimpanzee (PTR), gorilla (GGO) and orangutan (PPY) to search for its equivalent locations in the great ape species. Both probes hybridized to the equivalent telomeric sites of the long (q) arms of all three great ape species. Hybridization signals to the 7q subtelomeric DNA sequence probe were observed at the telomeres of HSA 7q, PTR 6q, GGO 6q and PPY 10q, while hybridization signals to the 14q subtelomeric DNA sequence probe were observed at the telomeres of HSA 14q, PTR 15q, GGO 18q and PPY 15q. No hybridization signals to the chromosome 7-specific alpha satellite DNA probe on the centromeric regions of the ape chromosomes were observed. Our observations demonstrate sequence homology of the subtelomeric repeat families D7S427 and D14S308 in the ape chromosomes. An analogous number of subtelomeric repeat units exists in these chromosomes and has been preserved through the course of differentiation of the hominoid species. Our investigation also suggests a difference in the number of alpha satellite DNA repeat units in the equivalent ape chromosomes, possibly derived from interchromosomal transfers and subsequent amplification of ancestral alpha satellite sequences.
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PMID:Physical mapping of human 7q and 14q subtelomeric DNA sequences in the great apes. 933 Sep 13

Four genes on the short arm of human chromosome 19 (HSA 19p) were assigned to bovine chromosome 7 (BTA 7) using a bovine x rodent somatic hybrid cell panel. These four genes were cartilage oligomeric matrix protein (COMP), lymphoblastic leukemia derived sequence 1 (LYL1), lysosomal alpha-mannosidase (MANB), and RAS oncogene family member RAB3A. Bovine sequence tagged sites were developed for the four genes and used for screening a bovine x rodent somatic cell panel. All four genes were mapped to bovine synteny group U22 (BTA 7) with a correlation coefficient of 0.901-1.000. This study confirms that the centromeric region of BTA 7 is conserved with HSA 19p.
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PMID:Synteny mapping of four genes from the short arm of human chromosome 19 to bovine chromosome 7. 960 58

Eleven genes were mapped to the porcine genome with the aim of improving the human-porcine comparative gene map. Five of these genes were from regions of the human genome painted by porcine chromosomal probes; of these, two mapped to chromosomes not expected from the painting results. Among the six genes from human regions not painted by porcine chromosomal probes, three genes did not map where expected by the principle of parsimony. Several of the gene assignments indicate the existence of small regions of conserved synteny not detected by heterologous chromosome painting, especially in telomeric regions. We have also detected new rearrangements in gene order within the regions of correspondence between human Chromosome (HSA) 15 and porcine Chromosome (SSC) 1 as well as between HSA4 and SSC8.
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PMID:New insights into porcine-human synteny conservation. 1033 23

Allelic loss of 17p13.3 is observed in approximately 40% of medulloblastomas, suggesting the presence of a tumor suppressor gene in this region. Deletion mapping has defined a region of common loss flanking the telomeric marker D17S34, and a recent report delineated a 9-kb homozygous deletion within the D17S34 locus in one such tumor. Using cDNA selection, we have identified a transcript spanning this deletion, designated (HSA)RPH3AL (rabphillin-3A-like), based on its 77% overall amino acid identity with a recently cloned rat gene, (RNO)Rph3al (originally termed Noc2), a gene putatively involved in regulated endocrine exocytosis through its interactions with the cytoskeleton. We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens. No mutations were identified. Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer.
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PMID:Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. 1039 5

The origin of human chromosomes (HSA) 7, 16, and 19 was studied by comparing data obtained from chromosome banding, chromosome painting, and gene mapping in species belonging to 11 orders of placental mammals (Eutherians). This allowed us to propose the reconstruction of their presumed ancestral forms. The HSA7 homologs were composed of two parts, the largest forming an acrocentric. The smallest formed one arm of a small submetacentric; the other arm was composed of sequences homologous to the short arm of HSA16 (HSA16p). The sequences homologous to the long arm of HSA16 (HSA16q) were associated with sequences homologous to the long arm of HSA19 (HSA19q) and formed another submetacentric. From their origin, these chromosomes underwent the following rearrangements to give rise to current human chromosomes: centromeric fission of the two submetacentrics in ancestors of all primates (approximately 80 million years ago); fusion of the HSA19p and HSA19q sequences, originating the current HSA19, in ancestors of all simians (approximately 55 million years ago); fusions of the HSA16p and HSA16q sequences, originating the current HSA16 and the two components of HSA7 before the separation of Cercopithecoids and Hominoids ( approximately 35 million years ago); and finally, pericentric and paracentric inversions of the homologs to HSA7 after the divergence of orangutan and gorilla, respectively. Thus, compared with HSA16 and HSA19, HSA7 is a fairly recent chromosome shared by man and chimpanzee only.
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PMID:Phylogenetic origin of human chromosomes 7, 16, and 19 and their homologs in placental mammals. 1081 86

A cosmid/bacterial artificial chromosome (BAC) contiguous (contig) map of human chromosome (HSA) 19p13.3 has been constructed, and over 50 genes have been localized to the contig. Genes and anonymous ESTs from approximately 4000 kb of human 19p13.3 were placed on the central mouse chromosome 10 map by genetic mapping and pulsed-field gel electrophoresis (PFGE) analysis. A region of approximately 2500 kb of HSA 19p13.3 is collinear to mouse chromosome (MMU) 10. In contrast, the adjacent approximately 1200 kb are inverted. Two genes are located in a 50-kb region after the inversion on MMU 10, followed by a region of homology to mouse chromosome 17. The synteny breakpoint and one of the inversion breakpoints has been localized to sequenced regions in human <5 kb in size. Both breakpoints are rich in simple tandem repeats, including (TCTG)n, (CT)n, and (GTCTCT)n, suggesting that simple repeat sequences may be involved in chromosome breaks during evolution. The overall size of the region in mouse is smaller, although no large regions are missing. Comparing the physical maps to the genetic maps showed that in contrast to the higher-than-average rate of genetic recombination in gene-rich telomeric region on HSA 19p13.3, the average rate of recombination is lower than expected in the homologous mouse region. This might indicate that a hot spot of recombination may have been lost in mouse or gained in human during evolution, or that the position of sequences along the chromosome (telomeric compared to the middle of a chromosome) is important for recombination rates.
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PMID:Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints. 1098 55

A comprehensive radiation hybrid (RH) map and a high resolution comparative map of Bos taurus (BTA) chromosome 18 were constructed, composed of 103 markers and 76 markers, respectively, by using a cattle-hamster somatic hybrid cell panel and a 5,000 rad whole-genome radiation hybrid (WGRH) panel. These maps include 65 new assignments (56 genes, 3 expressed-sequence tags, 6 microsatellites) and integrate 38 markers from the first generation WGRH(5,000) map of BTA18. Fifty-nine assignments of coding sequences were supported by somatic hybrid cell mapping to markers on BTA18. The total length of the comprehensive map was 1666 cR(5,000). Break-point positions within the chromosome were refined and a new telomeric RH linkage group was established. Conserved synteny between cattle, human, and mouse was found for 76 genes of BTA18 and human chromosomes (HSA) 16 and 19 and for 34 cattle genes and mouse chromosomes (MMU) 7 and 8. The new RH map is potentially useful for the identification of candidate genes for economically important traits, contributes to the expansion of the existing BTA18 gene map, and provides new information about the chromosome evolution in cattle, humans, and mice.
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PMID:A comparative radiation hybrid map of bovine chromosome 18 and homologous chromosomes in human and mice. 1185 6

ZOO-FISH (Fluorescent "in vitro" hybridization) was used to establish the chromosomal homology between humans (HSA) and Cebus nigrivitatus (CNI) and Ateles belzebuth hybridus (ABH). These two species belong to different New World monkey families (Cebidae and Atelidae, respectively) which differ greatly in chromosome number and in chromosome morphology. The molecular results were followed by a detailed banding analysis. The ancestral karyotype of Cebus was then determined by a comparison of in situ hybridization results, as well as chromosomal morphology and banding in other Platyrrhini species. The karyotypes of the four species belonging to the genus Cebus differ from each other by three inversions and one fusion as well as in the location and amounts of heterochromatin. Results obtained by ZOO-FISH in ABH are in general agreement with previous gene-mapping and in situ hybridization data in Ateles, which show that spider monkeys have highly derived genomes. The chromosomal rearrangements detected between HSA and ABH on a band-to-band basis were 27 fusions/fissions, 12 centromeric shifts, and six pericentric inversions. The ancestral karyotype of Cebus was then compared with that of Ateles. The rearrangements detected were 20 fusions/fissions, nine centromeric shifts, and five inversions. Atelidae species are linked by a fragmentation of chromosome 4 into three segments forming an association of 4/15, while Ateles species are linked by 13 derived associations. The results also helped clarify the content of the ancestral platyrrhine karyotype and the mode of chromosomal evolution in these primates. In particular, associations 2/16 and 5/7 should be included in the ancestral karyotype of New World monkeys.
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PMID:Chromosomal homologies between Cebus and Ateles (primates) based on ZOO-FISH and G-banding comparisons. 1221 Jun 70

The aim of this study was to analyse homology in the telomeric region of chromosome 11 in humans and a corresponding fragment in the porcine genome using the FISH technique. The human band specific probe (HSA 11p15) was used for hybridization with pig chromosomes. The obtained results showed strong signals on human chromosome 11p15, as well as pig chromosome 2p17. Some aspects of the similarity between the human and pig chromosome segments have been discussed.
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PMID:The application of human band specific probe (HSA11p15) to identify a corresponding region in the porcine genome. 1530 26


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