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Titolo:
CHARACTERIZATION OF THE HUMAN HOMOLOG OF THE MOUSE TG737 CANDIDATE POLYCYSTIC KIDNEY-DISEASE GENE
Autore:
SCHRICK JJ; ONUCHIC LF; REEDERS ST; KORENBERG J; CHEN XN; MOYER JH; WILKINSON JE; WOYCHIK RP;
Indirizzi:
UNIV TENNESSEE,GRAD SCH BIOMED SCI OAK RIDGE TN 37831 UNIV TENNESSEE,GRAD SCH BIOMED SCI OAK RIDGE TN 37831 YALE UNIV,SCH MED NEW HAVEN CT 00000 UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,AHMANSON DEPT PEDIAT,DIV GENET LOS ANGELES CA 90048 UNIV TENNESSEE,COLL VET SCI KNOXVILLE TN 37923 OAK RIDGE NATL LAB,DIV BIOL OAK RIDGE TN 37831
Titolo Testata:
Human molecular genetics
fascicolo: 4, volume: 4, anno: 1995,
pagine: 559 - 567
SICI:
0964-6906(1995)4:4<559:COTHHO>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
MECKEL SYNDROME; ESTERASE-D; RETINOBLASTOMA; CHROMOSOME-14; LOCALIZATION; ASSIGNMENT; SEQUENCE; TRISOMY; LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
43
Recensione:
Indirizzi per estratti:
Citazione:
J.J. Schrick et al., "CHARACTERIZATION OF THE HUMAN HOMOLOG OF THE MOUSE TG737 CANDIDATE POLYCYSTIC KIDNEY-DISEASE GENE", Human molecular genetics, 4(4), 1995, pp. 559-567

Abstract

We previously identified a gene from the mutant locus in a new mouse mutation that causes recessive polycystic kidney disease. Here we describe the cloning, characterization and mapping of the homologous humangene. The human and mouse genes are 95% identical at the predicted amino acid sequence level, and both genes encode a putative protein thatcontains a tetratricopeptide repeat motif. The human gene, called hTg737, is expressed with a broad tissue distribution that includes the kidney and liver, and gives rise to a 2.9 kb mRNA. The gene contains 26exons and spans a genomic region greater than 100 kb. Chromosome mapping experiments revealed that the hTg737 gene maps near the centromereon the long arm of human chromosome 13, at position 13q12.1. While this gene does not map to the primary locus that has been identified forARPKD in humans, it may represent a candidate gene for other recessive renal disorders that have yet to be mapped.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 19:39:05