A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation - PubMed (original) (raw)

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation

E J Michaud et al. Proc Natl Acad Sci U S A. 1994.

Abstract

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.

PubMed Disclaimer

Similar articles

• The embryonic lethality of homozygous lethal yellow mice (Ay/Ay) is associated with the disruption of a novel RNA-binding protein.
  Michaud EJ, Bultman SJ, Stubbs LJ, Woychik RP. Michaud EJ, et al. Genes Dev. 1993 Jul;7(7A):1203-13. doi: 10.1101/gad.7.7a.1203. Genes Dev. 1993. PMID: 8319910
• Pleiotropic effects of the mouse lethal yellow (Ay) mutation explained by deletion of a maternally expressed gene and the simultaneous production of agouti fusion RNAs.
  Duhl DM, Stevens ME, Vrieling H, Saxon PJ, Miller MW, Epstein CJ, Barsh GS. Duhl DM, et al. Development. 1994 Jun;120(6):1695-708. doi: 10.1242/dev.120.6.1695. Development. 1994. PMID: 8050375
• Ectopic expression of the agouti gene in transgenic mice causes obesity, features of type II diabetes, and yellow fur.
  Klebig ML, Wilkinson JE, Geisler JG, Woychik RP. Klebig ML, et al. Proc Natl Acad Sci U S A. 1995 May 23;92(11):4728-32. doi: 10.1073/pnas.92.11.4728. Proc Natl Acad Sci U S A. 1995. PMID: 7761391 Free PMC article.
• The molecular basis for dominant yellow agouti coat color mutations.
  Perry WL, Copeland NG, Jenkins NA. Perry WL, et al. Bioessays. 1994 Oct;16(10):705-7. doi: 10.1002/bies.950161002. Bioessays. 1994. PMID: 7980472 Review.
• Genomic organization and molecular genetics of the agouti locus in the mouse.
  Siracusa LD. Siracusa LD. Ann N Y Acad Sci. 1991 Dec 26;642:419-30. doi: 10.1111/j.1749-6632.1991.tb24406.x. Ann N Y Acad Sci. 1991. PMID: 1809096 Review.

Cited by

• Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
  Liu F, Visser M, Duffy DL, Hysi PG, Jacobs LC, Lao O, Zhong K, Walsh S, Chaitanya L, Wollstein A, Zhu G, Montgomery GW, Henders AK, Mangino M, Glass D, Bataille V, Sturm RA, Rivadeneira F, Hofman A, van IJcken WF, Uitterlinden AG, Palstra RJ, Spector TD, Martin NG, Nijsten TE, Kayser M. Liu F, et al. Hum Genet. 2015 Aug;134(8):823-35. doi: 10.1007/s00439-015-1559-0. Epub 2015 May 12. Hum Genet. 2015. PMID: 25963972 Free PMC article.
• Quantitative trait locus mapping of genes that control body length and plasma insulin-like growth factor 1 level in mice.
  Suto J. Suto J. BMC Res Notes. 2012 Oct 2;5:547. doi: 10.1186/1756-0500-5-547. BMC Res Notes. 2012. PMID: 23031221 Free PMC article.
• Melanocortin 1 Receptor: Structure, Function, and Regulation.
  Wolf Horrell EM, Boulanger MC, D'Orazio JA. Wolf Horrell EM, et al. Front Genet. 2016 May 31;7:95. doi: 10.3389/fgene.2016.00095. eCollection 2016. Front Genet. 2016. PMID: 27303435 Free PMC article. Review.
• Mahogany (mg) stimulates feeding and increases basal metabolic rate independent of its suppression of agouti.
  Dinulescu DM, Fan W, Boston BA, McCall K, Lamoreux ML, Moore KJ, Montagno J, Cone RD. Dinulescu DM, et al. Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12707-12. doi: 10.1073/pnas.95.21.12707. Proc Natl Acad Sci U S A. 1998. PMID: 9770550 Free PMC article.
• Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus.
  Hustad CM, Perry WL, Siracusa LD, Rasberry C, Cobb L, Cattanach BM, Kovatch R, Copeland NG, Jenkins NA. Hustad CM, et al. Genetics. 1995 May;140(1):255-65. doi: 10.1093/genetics/140.1.255. Genetics. 1995. PMID: 7635290 Free PMC article.

References

1. 1. Mamm Genome. 1992;2(1):51-63 - PubMed
2. 1. Genes Dev. 1993 Mar;7(3):454-67 - PubMed
3. 1. J Exp Zool. 1974 Jun;188(3):307-20 - PubMed
4. 1. Am J Physiol. 1958 Jun;193(3):499-504 - PubMed
5. 1. Am J Clin Nutr. 1987 Jan;45(1 Suppl):168-80 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Atypon
  • Europe PubMed Central
  • PubMed Central

• Other Literature Sources

  • The Lens - Patent Citations Database

• Molecular Biology Databases

  • Mouse Genome Informatics (MGI)

• Miscellaneous

  • NCI CPTAC Assay Portal