Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals

Brad A. Freking, Susan K. Murphy, Andrew A. Wylie, Simon Rhodes, John W. Keele, Kreg A. Leymaster, Randy L. Jirtle, Timothy P L Smith

Research output: Contribution to journalArticle

170 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1496-1506
Number of pages11
JournalGenome Research
Volume12
Issue number10
DOIs
StatePublished - Oct 1 2002

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Hypertrophy
Mammals
Sheep
Phenotype
Muscles
Mutation
Genotype
Chromosomes, Human, Pair 18
Telomere
Open Reading Frames
Genes
Sequence Analysis
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. / Freking, Brad A.; Murphy, Susan K.; Wylie, Andrew A.; Rhodes, Simon; Keele, John W.; Leymaster, Kreg A.; Jirtle, Randy L.; Smith, Timothy P L.

In: Genome Research, Vol. 12, No. 10, 01.10.2002, p. 1496-1506.

Research output: Contribution to journalArticle

Freking, Brad A. ; Murphy, Susan K. ; Wylie, Andrew A. ; Rhodes, Simon ; Keele, John W. ; Leymaster, Kreg A. ; Jirtle, Randy L. ; Smith, Timothy P L. / Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. In: Genome Research. 2002 ; Vol. 12, No. 10. pp. 1496-1506.
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