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Eo: a history of a mutation.
Author(s) -
Dembić Z.,
Singer P.A.,
Klein J.
Publication year - 1984
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1984.tb02025.x
Subject(s) - biology , gene , genetics , exon , mutation , haplotype , microbiology and biotechnology , southern blot , allele
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.