| A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. | |
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MedLine Citation:
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PMID: 8146154 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lethal yellow (Ay) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for Ay results in preimplantation lethality, which terminates development by the blastocyst stage. The Ay mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3' end of the agouti gene. We present a model for the structure of the Ay allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the agouti gene. |
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Authors:
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E J Michaud; S J Bultman; M L Klebig; M J van Vugt; L J Stubbs; L B Russell; R P Woychik |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 91 ISSN: 0027-8424 ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Publication Date: 1994 Mar |
Date Detail:
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Created Date: 1994-05-05 Completed Date: 1994-05-05 Revised Date: 2010-09-13 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 2562-6 Citation Subset: IM |
Affiliation:
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Biology Division, Oak Ridge National Laboratory, TN 37831-8077. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Agouti Signaling Protein Alleles Animals Chromosome Mapping Diabetes Mellitus, Type 2 / genetics Genes, Dominant / genetics Genes, Lethal / genetics Genes, Recessive / genetics Hair Color / genetics Intercellular Signaling Peptides and Proteins* Mice Mice, Mutant Strains / genetics* Muridae / genetics* Mutation / genetics* Neoplasms, Experimental / genetics Obesity / genetics Proteins / genetics* Recombination, Genetic / genetics Sequence Deletion |
| Grant Support | |
ID/Acronym/Agency:
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IAG 222Y01-ES-10067/ES/NIEHS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Agouti Signaling Protein; 0/Intercellular Signaling Peptides and Proteins; 0/Proteins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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