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)

Bovine X hamster and bovine X mouse hybrid somatic cells have been used to investigate the syntenic relationship of nine loci in the bovine that have homologous loci on human chromosome 12. Eight loci, including A2M, GLI, HOX3, IFNG, INT1, KRAS2, NKNB, and PAH, were assigned to the previously identified bovine syntenic group U3 represented by GAPD. However, a single locus from the q-terminus of HSA 12, ALDH2, mapped to a new, previously unidentified autosomal syntenic group. These results indicate the existence of a very large ancestral syntenic group spanning from the p-terminus to q24 of HSA 12 and containing over 4% of the mammalian genome. Additionally, the results predict that ALDH2 is distal to PAH and IFNG on HSA 12, the type II keratin gene complex will reside between q11 and q21 of HSA 12, A2M will map to MMU 6, and LALBA and GLI will map to MMU 15.
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PMID:Syntenic conservation between humans and cattle. II. Human chromosome 12. 208 97

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

We previously identified and purified a human ATP-dependent chromatin remodeling complex with similarity to the Saccharomyces cerevisiae INO80 complex (Jin, J., Cai, Y., Yao, T., Gottschalk, A. J., Florens, L., Swanson, S. K., Gutierrez, J. L., Coleman, M. K., Workman, J. L., Mushegian, A., Washburn, M. P., Conaway, R. C., and Conaway, J. W. (2005) J. Biol. Chem. 280, 41207-41212) and demonstrated that it is composed of (i) a Snf2 family ATPase (hIno80) related in sequence to the S. cerevisiae Ino80 ATPase; (ii) seven additional evolutionarily conserved subunits orthologous to yeast INO80 complex subunits; and (iii) six apparently metazoan-specific subunits. In this report, we present evidence that the human INO80 complex is composed of three modules that assemble with three distinct domains of the hIno80 ATPase. These modules include (i) one that is composed of the N terminus of the hIno80 protein and all of the metazoan-specific subunits and is not required for ATP-dependent nucleosome remodeling; (ii) a second that is composed of the hIno80 Snf2-like ATPase/helicase and helicase-SANT-associated/post-HSA (HSA/PTH) domain, the actin-related proteins Arp4 and Arp8, and the GLI-Kruppel family transcription factor YY1; and (iii) a third that is composed of the hIno80 Snf2 ATPase domain, the Ies2 and Ies6 proteins, the AAA(+) ATPases Tip49a and Tip49b, and the actin-related protein Arp5. Through purification and characterization of hINO80 complex subassemblies, we demonstrate that ATP-dependent nucleosome remodeling by the hINO80 complex is catalyzed by a core complex comprising the hIno80 protein HSA/PTH and Snf2 ATPase domains acting in concert with YY1 and the complete set of its evolutionarily conserved subunits. Taken together, our findings shed new light on the structure and function of the INO80 chromatin-remodeling complex.
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PMID:Subunit organization of the human INO80 chromatin remodeling complex: an evolutionarily conserved core complex catalyzes ATP-dependent nucleosome remodeling. 2130 10