Taxon:

Sheep

Gene:

Callipyge (CLPG)

Chromosome:

18

Location:

18q (IDVGA30-OY3)

Description:

The callipyge gene phenotype (muscular hypertrophy of the buttocks) involves the expression of at least four imprinted genes, two paternally expressed protein coding genes DLK1 and PEG11 (overexpressed in callipyge sheep), and two maternally expressed genes encoding long non-coding RNAs, GTL2 and MEG8 (unexpressed in callipyge sheep). The callipyge gene phenotype is only observed in heterozygotes that inherit the callipyge mutation paternally, an inheritance pattern termed “polar overdominance”. The callipyge mutation involves a single substitution in a conserved non-coding region between DLK1 and GTL2, termed a “long-range control element”(Freking BA et al. 2002). The exact action of this mutation is not yet known (review by Georges M, et al. 2003; Davis E et al, 2004). Persistant elevation of DLK1 expression in longissimus dorsi and biceps femoris muscles of postnatal callipyge sheep has been shown and may be attributable to this mutation (Murphy SK et al, 2005). The PEG11 gene has been shown to encode a protein that is overexpressed in callipyge skeletal muscle in a pattern similar to that observed during fetal development (Byrne K et al, 2010). Overexpression of PEG11 may have a role in inducing muscle hypertrophy.

Category:

Parental effect

Record:

123

Last Modified 6/1/2010

Links:

OMIA  


*To look at further records use the Back button on your browser to return to the Summary Table

New Search

Home