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Published online before print September 13, 2002, 10.1101/gr.571002
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Vol. 12, Issue 10, 1496-1506, October 2002

LETTER
Identification of the Single Base Change Causing the Callipyge Muscle Hypertrophy Phenotype, the Only Known Example of Polar Overdominance in Mammals

Brad A. Freking,1,4 Susan K. Murphy,2 Andrew A. Wylie,2 Simon J. Rhodes,3 John W. Keele,1 Kreg A. Leymaster,1 Randy L. Jirtle,2 and Timothy P.L. Smith1

1 U.S. Department of Agriculture, Agricultural Research Service, U.S. Meat Animal Research Center, Clay Center, Nebraska 68933-0166, USA; 2 Department of Radiation Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA; 3 Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, Indiana 46202, USA.

A small genetic region near the telomere of ovine chromosome 18 was previously shown to carry the mutation causing the callipyge muscle hypertrophy phenotype in sheep. Expression of this phenotype is the only known case in mammals of paternal polar overdominance gene action. A region surrounding two positional candidate genes was sequenced in animals of known genotype. Mutation detection focused on an inbred ram of callipyge phenotype postulated to have inherited chromosome segments identical-by-descent with exception of the mutated position. In support of this hypothesis, this inbred ram was homozygous over 210 Kb of sequence, except for a single heterozygous base position. This single polymorphism was genotyped in multiple families segregating the callipyge locus (CLPG), providing 100% concordance with animals of known CLPG genotype, and was unique to descendants of the founder animal. The mutation lies in a region of high homology among mouse, sheep, cattle, and humans, but not in any previously identified expressed transcript. A substantial open reading frame exists in the sheep sequence surrounding the mutation, although this frame is not conserved among species. Initial functional analysis indicates sequence encompassing the mutation is part of a novel transcript expressed in sheep fetal muscle we have named CLPG1.

[The sequence data described in this paper have been submitted to GenBank under the following accession numbers: G74891-G75331 for all STS generated; AF401294 for the amplicon identifying the specific callipyge mutation; AF533009 for the partial expressed transcript.]

4 Corresponding author.

12:1496-1506 ©2002 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/02 $5.00
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