Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0393754 (HSA)
 2,996 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Karyotypic homology in relation to human chromosome 9 (HSA 9) was studied through comparative mapping of the immunoglobulin-processed pseudogene C epsilon 3 (IGHEP2) in primates. IGHEP2, which has been mapped to 9p24.2 --> p24.1 in the human genome, was assigned to PTR 11q34 (common chimpanzee), PPA 11q34 (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, cCI9-37 (9q22.1 --> q22.2), cCI9-135 (9q22.32 --> q22.33), and cCI9-208 (9p13.3 --> p13.2), were also assigned to PTR/PPA 11p11 (cCI9-37 and 135), PTR/PPA 11q22 (cCI9-208), PPY 13q22 (cCI9-37 and 135), and PPY 13q12 (cCI9-208). 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 HSA 9 and its homologs.
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PMID:Molecular anatomy of human chromosome 9: comparative mapping of the immunoglobulin processed pseudogene C epsilon 3 (IGHEP2) in primates. 864 93

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

Almost a quarter of a century ago, the banding patterns of human and other higher primate chromosomes were compared, creating a barrage of speculation. Consequently, a number of approaches have been used to understand human descent. Chromosome modifications are believed to be important in the origin of species, and pericentric inversions account for the majority of evolutionary chromosomal alterations seen in Hominoidea. A comparative mapping fluorescence in situ hybridization technique, using locus-specific DNA probes as phylogenotic markers, was used to decipher the pericentric inversions of human chromosomes 11 and 12. Human-derived (Homo sapiens, HSA) DNA probes for GLI, HST and INT2 protooncogenes were used to identify their homologous locations in the chromosomes of chimpanzee (Pan troglodytes, PTR), gorilla (Gorilla gorilla, GGO) and orangutan (Pongo pygmaeus, PPY). The INT2 and HST loci mapping results confirm the earlier putative claim that a pericentric inversion took place in HSA chromosome 11 and its equivalent PTR and GGO chromosomes. In addition, these data provide additional information regarding the orangutan's position on the evolutionary tree of Pongidae and Hominidae. GLI mapping reveals that a pericentric inversion occurred in the HSA chromosome 12 equivalent in PTR and GGO, but was not seen in HSA or PPY. These pericentric inversions in PTR and GGO may have occurred at a period when both PTR and GGO had branched off from the Hominoidae trunk. The use of loci-specific probes to decipher pericentric inversions has proved to be a formidable approach in characterizing chromosome rearrangements and providing further evidence on human descent.
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PMID:Evolutionary divergence of the oncogenes GLI, HST and INT2. 972 Mar

Relative phylogenetic divergence of the members of the Pongidae family has been based on genetic evidence. The recent isolation of subtelomeric probes specific for human (HSA) chromosomes 1q, 11p, 13q, and 16q has prompted us to cross-hybridize these to the chromosomes of the chimpanzee (Pan troglodytes, PTR), gorilla (Gorilla gorilla, GGO), and orangutan (Pongo pygmaeus, PPY) to search for their equivalent locations in the great apes. Hybridization signals to the 1q subtelomeric DNA sequence probe were observed at the termini of human (HSA) 1q, PTR 1q, GGO 1q, PPY 1q, while the fluorescent signals to the 11p subtelomeric DNA sequence probe were observed at the termini of HSA 11p, PTR 9p, GGO 9p, and PPY 8p. Fluorescent signals to the 13q subtelomeric DNA sequence probe were observed at the termini of HSA 13q, PTR 14q, GGO 14q, and PPY 14q, and positive signals to the 16p subtelomeric DNA sequence probe were observed at the termini of HSA 16q, PTR 18q, GGO 17q, and PPY 19q. These findings apparently suggest sequence homology of these DNA families in the ape chromosomes. Obviously, analogous subtelomeric sequences exist in apes' chromosomes that apparently have been conserved through the course of differentiation of the hominoid species.
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PMID:Localization of subtelomeric sequences of human chromosomes 1q, 11p, 13q, and 16q in the higher primates. 1048 91

We have investigated the evolutionary history of the 4q35 paralogous region, and of a sub-family of interspersed LSau repeats. In HSA, 4q35 duplications were localized at 1q12, 3p12.3, 4q35, 10q26, 20cen, whereas duplicons and interspersed LSau repeats simultaneously labeled the p arm of acrocentric chromosomes. A multi-site localization of 4q35-like sequences was also observed in PTR, GGO, PPY, HLA (Hominoidea) and PAN (Old World monkey), thus indicating that duplications of this region have occurred extensively in the two clades, which diverged at least 25 million years ago. In HSA, PTR and PAN, 4q35-derived duplicons co-localized with rDNA, whereas in GGO and PPY this association was partially lacking. In PAN, the single- and multi-site distribution of rDNA and paralogous sequences, respectively, indicates a different timing of sequence dispersal. The sub-family of interspersed LSau repeats showed a lesser dispersal than 4q35 duplications both in man and great apes. This finding suggests that duplications and repeated sequences have undergone different expansion/contraction events during evolution. The mechanisms underlying the dispersal of paralogous regions may be further derived through studies comparing the detailed structural organization of these genomic regions in man and primates.
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PMID:Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats. 1238 99