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Titolo:
MAPPING OF THE X-LINKED CATARACT (XCAT) MUTATION, THE GENE IMPLICATEDIN THE NANCE-HORAN-SYNDROME, ON THE MOUSE X-CHROMOSOME
Autore:
STAMBOLIAN D; FAVOR J; SILVERS W; AVNER P; CHAPMAN V; ZHOU E;
Indirizzi:
UNIV PENN,SCH MED,CRB,DEPT GENET,422 CURIE BLVD PHILADELPHIA PA 19104 UNIV PENN,SCHEIE EYE INST,DEPT OPHTHALMOL PHILADELPHIA PA 19104 GSF MUNICH,INST SAUGETIERGENET D-85764 NEUHERBERG GERMANY INST PASTEUR,UNITE GENET MOLEC F-75015 PARIS FRANCE ROSWELL PK CANC INST,DEPT MOLEC & CELLULAR BIOL BUFFALO NY 14263
Titolo Testata:
Genomics
fascicolo: 2, volume: 22, anno: 1994,
pagine: 377 - 380
SICI:
0888-7543(1994)22:2<377:MOTXC(>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
LOCALIZATION; EXPRESSION; LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
D. Stambolian et al., "MAPPING OF THE X-LINKED CATARACT (XCAT) MUTATION, THE GENE IMPLICATEDIN THE NANCE-HORAN-SYNDROME, ON THE MOUSE X-CHROMOSOME", Genomics, 22(2), 1994, pp. 377-380

Abstract

The Xcat mutation in the mouse, an X-linked inherited disorder, is characterized by the congenital onset of cataracts. The cataracts have morphologies similar to those of cataracts found in the human Nance Horan (X-linked cataract dental) syndrome, suggesting that Xcat is an animal model for Nance Horan. The Xcat mutation provides an opportunity to investigate, at the molecular level, the pathogenesis of cataract. As a first step to cloning the Xcat gene, we report the localization ofthe Xcat mutation with respect to known molecular markers on the mouse X chromosome. Backcross progeny carrying the Xcat mutation were obtained from an interspecific cross. Genomic DNA from each mouse was subjected to Southern and PCR analysis to identify restriction fragment length polymorphisms and simple sequence length polymorphisms, respectively. Our results refine the location of Xcat to a 2-cM region, eliminate several genes from consideration as the Xcat mutation, identify molecular probes tightly linked with Xcat, and suggest candidate genes responsible for the Xcat phenotype. (C) 1994 Academic Press, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 00:19:53