International Mammalian Genome Society


The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

F37 Localization of a Breakpoint of Chromosomal Inversion Responsible for the Hairy Ears (Eh) Mutation

Tetsuo Kunieda, Izumi Ojika, Miyuki Nakamura. Faculty of Agriculture, Okayama University, Tsushima-naka, Okayma 700-8530, Japan

The hairy ears (Eh) is dominant mutation originated in a neutron irradiated experiment at Oak Ridge National Laboratory. Heterozygotes (Eh/+) have a small pinna with a tuft of hair on the inner surface, while homozygotes (Eh/Eh) is embryonic lethal. Heterozygotes also show facial dysmorphia including broad face and shortened nose. The Eh mutation is associated with a paracentric chromosomal inversion that suppresses recombination in a particular region of chromosome 15. The gene responsible for the Eh mutation is, therefore, likely to locate on either breakpoint of the chromosomal inversion. In the present study, we determined precise localization of one of the breakpoints by linkage analysis. Intersubspecifc backcross progeny of (C57BL/6By-Eh x JF1)F1 x C57BL/6By was typed for microsatellite markers on chromosome 15. JF1 is an inbred strain derived from M.m.molossinus. The linkage analysis revealed that recombination between maker loci was suppressed in a region between D15Mit115 and D15Mit35 indicating that the inversion covers approximately 40-cM region which correspond to almost two third of chromosome 15. Further linkage analysis indicated that the proximal break point of the inversion was localized in a region less than 2cM between D15Mit115 and D15Mit26. The other end of the inversion extend almost distal end of the chromosome and we could not determine precise localization of the breakpoint. The localization of the proximal breakpoint in this region was also confirmed by FISH using YAC clones containing these microsatellites. No possible candidate gene for Eh phenotypes has so far been identified in this region.

 


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