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Titolo:
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping
Autore:
Costanzi, E; Beccari, T; Stinchi, S; Bibi, L; Hopwood, JJ; Orlacchio, A;
Indirizzi:
Univ Perugia, Dipartimento Biol Cellulare & Mol, Sez Biochim & Biol Mol, I-06126 Perugia, Italy Univ Perugia Perugia Italy I-06126 im & Biol Mol, I-06126 Perugia, Italy Womens & Childrens Hosp, Dept Chem Pathol, Lysosomal Dis Res Unit, N Adelaide, SA 5006, Australia Womens & Childrens Hosp N Adelaide SA Australia 5006 , SA 5006, Australia
Titolo Testata:
MAMMALIAN GENOME
fascicolo: 6, volume: 11, anno: 2000,
pagine: 436 - 439
SICI:
0938-8990(200006)11:6<436:GETMSC>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
SANFILIPPO-A PATIENTS; MOLECULAR DEFECTS; IDENTIFICATION; SULFAMIDASE; EXPRESSION; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Beccari, T Univ Perugia, Dipartimento Biol Cellulare & Mol, Sez Biochim & Biol Mol, Via Giochetto, I-06126 Perugia, Italy Univ Perugia Via Giochetto Perugia Italy I-06126 erugia, Italy
Citazione:
E. Costanzi et al., "Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping", MAMM GENOME, 11(6), 2000, pp. 436-439

Abstract

Sulphamidase is an exoglycosidase involved in the degradation of heparan sulfate. Lack of sulphamidase activity leads to the lysosomal storage disorder Mucopolysaccharidosis type IIIA (Sanfilippo type A OMIM No. 252900). At present there an no naturally occurring small animal models of this diseasethat could be of fundamental importance to study the pathophysiology of the disease and to try therapeutic strategies. Cloning of the mouse gene is an important step to create a mouse model for this common mucopolysaccharidosis. We have isolated and sequenced the gene encoding mouse sulphamidase, Comparison of the deduced amino acid sequences of human and mouse sulphamidase showed 88% identity and 93% similarity. The exon-intron structure of thegene has been determined with the mouse 10-kb gene divided in 8 exons. Themouse sulphamidase gene (Sgsh) was mapped to the distal end of Chromosome (Chr) 11, in a region that is homologous with a segment of human Chr 17 containing the orthologous human gene.

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Documento generato il 28/09/20 alle ore 15:40:04