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Titolo:
STRUCTURE AND EXPRESSION OF THE MOUSE BETA-HEXOSAMINIDASE GENES, HEXAAND HEXB
Autore:
YAMANAKA S; JOHNSON ON; NORFLUS F; BOLES DJ; PROIA RL;
Indirizzi:
NIDDKD,GENET & BIOCHEM BRANCH,BIOCHEM GENET SECT,BLDG 10,ROOM 9D-15 BETHESDA MD 20892 NIDDKD,GENET & BIOCHEM BRANCH,BIOCHEM GENET SECT BETHESDA MD 20892
Titolo Testata:
Genomics
fascicolo: 3, volume: 21, anno: 1994,
pagine: 588 - 596
SICI:
0888-7543(1994)21:3<588:SAEOTM>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
N-ACETYLHEXOSAMINIDASE-A; SEQUENCE-ANALYSIS; ALPHA-SUBUNIT; EXTENSIVE HOMOLOGY; ACTIVATOR PROTEIN; HUMAN ENZYME; CDNA; CLONING; ORGANIZATION; CHAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
43
Recensione:
Indirizzi per estratti:
Citazione:
S. Yamanaka et al., "STRUCTURE AND EXPRESSION OF THE MOUSE BETA-HEXOSAMINIDASE GENES, HEXAAND HEXB", Genomics, 21(3), 1994, pp. 588-596

Abstract

Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase. In the mouse, the corresponding genes are termed Hexa and Hexb. The subunits dimerize to yield three isozymes, beta-hexosaminidase A (alpha beta), B (beta beta), and S (alpha alpha), that have the capacity to degrade a variety of substrates containing beta-linked N-acetylglucosamine and N-acetylgalactosamine residues. Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively. As a prelude to the creation of mouse models of these lysosomal storage diseases, we have characterized the molecular biology of the mouse beta-hexosaminidase system. Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also verysimilar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB. The mouse hexosaminidase subunits, when expressed in HeLa cells from the cDNAs, displayed specificity toward synthetic substrates similar to the human subunits. The Hexa and Hexb genes were 25 and 22 kb in length, respectively. Each gene was divided into 14 exons, with the positions of introns precisely matching those ofthe corresponding human genes. The 5' flanking regions of the mouse genes demonstrated promoter activity as ascertained by their ability todrive chloramphenicol acetyltransferase gene expression in transfected NIH 3T3 cells. The sequences of these regulatory regions were G + C-rich in the 200 bp upstream of the respective initiator ATGs. Several putative promoter elements were present, including Sp1, AP2, CAAT, andTATA motifs. The widespread tissue distribution of the Hexa and Hexb transcripts conformed to the housekeeping role of the enzyme. However,the expression pattern of the genes was not coincident, implying tissue-specific differences in promoter function. (C) 1994 Academic Press,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 19:12:31