Eo: a history of a mutation.

Z. Dembić, P. A. Singer, Jan Klein

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Eighteen mouse t haplotype-carrying strains were found not to express cell-surface E molecules controlled by class II genes of the H-2 complex (= Eo strains). Northern and Southern blot analysis of these and other, non-t strains that also fail to express the E molecule, has revealed two kinds of defect. Three strains (CRO437, tw2, and presumably to) were found to transcribe the E alpha gene, but they were not able to convert the message into a functional protein. All other Eo strains fail to transcribe the E alpha gene because of a deletion encompassing the promoter region, the RNA initiation site, and the first exon. The length of the deletion is approximately 650 +/- 50 bp. These two defects closely resemble those found previously in standard inbred strains carrying the H-2f, H-2q (failure of E mRNA to be expressed functionally), H-2b, and H-2s (deletion of a part of the E alpha gene) haplotypes. In particular, the location and length of the E alpha deletion appear to be the same in the strains carrying this mutation. The E alpha deletion is in linkage disequilibrium with certain alleles at other H-2 loci in some of the strains. These observations, combined with the growing evidence that H-2 haplotypes associated with t chromosomes derive from a single ancestral haplotype, suggest that the E alpha deletion is an old mutation and that it has been disseminated in mouse populations by the t chromosomes.

Original languageEnglish (US)
Pages (from-to)1647-1654
Number of pages8
JournalEMBO Journal
Volume3
Issue number7
StatePublished - Jul 1 1984

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Haplotypes
Mutation
t-Complex Genome Region
Chromosomes
Genes
MHC Class II Genes
Linkage Disequilibrium
Southern Blotting
Genetic Promoter Regions
Northern Blotting
Exons
Alleles
RNA
Messenger RNA
Defects
Molecules
Population
Proteins

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Molecular Biology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)

Cite this

Dembić, Z., Singer, P. A., & Klein, J. (1984). Eo: a history of a mutation. EMBO Journal, 3(7), 1647-1654.
Dembić, Z. ; Singer, P. A. ; Klein, Jan. / Eo : a history of a mutation. In: EMBO Journal. 1984 ; Vol. 3, No. 7. pp. 1647-1654.
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Dembić, Z, Singer, PA & Klein, J 1984, 'Eo: a history of a mutation.', EMBO Journal, vol. 3, no. 7, pp. 1647-1654.

Eo : a history of a mutation. / Dembić, Z.; Singer, P. A.; Klein, Jan.

In: EMBO Journal, Vol. 3, No. 7, 01.07.1984, p. 1647-1654.

Research output: Contribution to journalArticle

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Dembić Z, Singer PA, Klein J. Eo: a history of a mutation. EMBO Journal. 1984 Jul 1;3(7):1647-1654.