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Titolo:
The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene
Autore:
Tucker, P; Laemle, L; Munson, A; Kanekar, S; Oliver, ER; Brown, N; Schlecht, H; Vetter, M; Glaser, T;
Indirizzi:
Univ Michigan, Museum Zool, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Museum Zool, Ann Arbor, MI 48109 USA Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI 48109 USA UnivMichigan Ann Arbor MI USA 48109 ionary Biol, Ann Arbor, MI 48109 USA Univ Med & Dent New Jersey, Dept Anat, Newark, NJ 07103 USA Univ Med & Dent New Jersey Newark NJ USA 07103 Anat, Newark, NJ 07103 USA Univ Med & Dent New Jersey, Dept Cell Biol, Newark, NJ 07103 USA Univ Med & Dent New Jersey Newark NJ USA 07103 Biol, Newark, NJ 07103 USA Univ Med & Dent New Jersey, Dept Mol Med & Ophthalmol, Newark, NJ 07103 USA Univ Med & Dent New Jersey Newark NJ USA 07103 lmol, Newark, NJ 07103 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 nternal Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Human Genet, Ann Arbor, MI 48109 USA Univ Utah, Dept Neurobiol & Anat, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA Neurobiol & Anat, Salt Lake City, UT USA Northwestern Univ, Childrens Mem Inst Educ & Res, Dept Pediat, Chicago, IL60611 USA Northwestern Univ Chicago IL USA 60611 Dept Pediat, Chicago, IL60611 USA
Titolo Testata:
GENESIS
fascicolo: 1, volume: 31, anno: 2001,
pagine: 43 - 53
SICI:
1526-954X(200109)31:1<43:TEMM(R>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSLATION INITIATION CODON; ANOPHTHALMIC MICE; XENOPUS-EMBRYOS; SUPRACHIASMATIC NUCLEI; BRAIN-DEVELOPMENT; EXPRESSION; MICROPHTHALMIA; PROTEIN; LENS; RETINA;
Keywords:
Rx; rax; homeobox; eye development; start codon; mouse; mutation; protein translation; leaky scanning;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
79
Recensione:
Indirizzi per estratti:
Indirizzo: Glaser, T 4510 MSRB 1,Box 0650,1150 W Med Ctr Dr, Ann Arbor, MI 48109 USA4510 MSRB 1,Box 0650,1150 W Med Ctr Dr Ann Arbor MI USA 48109 A
Citazione:
P. Tucker et al., "The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene", GENESIS, 31(1), 2001, pp. 43-53

Abstract

The eyeless inbred mouse strain ZRDCT has long served as a spontaneous model for human anophthalmia and the evolutionary reduction of eyes that has occurred in some naturally blind mammals. ZRDCT mice have orbits but lack eyes and optic tracts and have hypothalamic abnormalities. Segregation data suggest that a small number of interacting genes are responsible, including at least one major recessive locus, ey1. Although predicted since the 1940s, these loci were never identified. We mapped ey1 to chromosome 18 using anF2 genome scan and there found a Met10 --> Leu mutation in Rx/rax, a homeobox gene that is expressed in the anterior headfold, developing retina, pineal, and hypothalamus and is translated via a leaky scanning mechanism. Themutation affects a conserved AUG codon that functions as an alternative translation initiation site and consequently reduces the abundance of Rx protein. In contrast to a targeted Rx null allele, which causes anophthalmia, central nervous system defects, and neonatal death, the hypomorphic M10L allele is fully viable. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 28/03/20 alle ore 23:08:57