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Author Topic:   Mutations & structural modifications - Redux
Adminnemooseus
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Posts: 3976
Joined: 09-26-2002


Message 21 of 22 (52000)
08-23-2003 7:58 PM


From another topic
Wounded King couldn't track down this topic, so he started a new one, "Morphology and mutation".
I'm bringing in the following (posted by Wounded King), and closing that other topic.
quote:
A previous thread on mutations leading to structural changes in an organism seems to have dropped off the end of this Forum. I was going to add this particular example to it.
Trends Genet. 2003 May;19(5):248-52.
The callipyge locus: evidence for the trans interaction of reciprocally imprinted genes.
Georges M, Charlier C, Cockett N.
The callipyge phenotype in sheep is an inherited muscular hypertrophy that affects only heterozygous individuals who receive the CLPG mutation from their father. The CLPG mutation is a single nucleotide substitution in what is probably a long-range control element (LRCE) within the DLK1-GTL2 imprinted domain. Recent results suggest that the unique mode of inheritance of callipyge, referred to as polar overdominance, results from the combination of the cis-effect of the CLPG mutation on the expression levels of genes in the DLK1-GTL2 imprinted domain, and the trans interaction between the products of reciprocally imprinted genes.
this paper is also interesting in that the mutation is regulated by imprinting and shows that epigenetic factors can have considerable influence on phenotype.
Adminnemooseus
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