Abstract
We herein describe the positional identification of a 2-bp deletion in the open reading frame of the MRC2 receptor causing the recessive Crooked Tail Syndrome in cattle. The resulting frame-shift reveals a premature stop codon that causes nonsense-mediated decay of the mutant messenger RNA, and the virtual absence of functional Endo180 protein in affected animals. Cases exhibit skeletal anomalies thought to result from impaired extracellular matrix remodeling during ossification, and as of yet unexplained muscular symptoms. We demonstrate that carrier status is very significantly associated with desired characteristics in the general population, including enhanced muscular development, and that the resulting heterozygote advantage caused a selective sweep which explains the unexpectedly high frequency (25%) of carriers in the Belgian Blue Cattle Breed.
Highlights
The Belgian Blue Cattle breed (BBCB) is notorious for its exceptional muscular development known as ‘‘double-muscling’’
Livestock are being subject to intense artificial selection aimed at ever-increasing, sometimes extreme, production phenotypes
This is well-illustrated by the exceptional muscular hypertrophy characterizing the ‘‘double-muscled’’ Belgian Blue Cattle Breed (BBCB)
Summary
The Belgian Blue Cattle breed (BBCB) is notorious for its exceptional muscular development known as ‘‘double-muscling’’. This extreme phenotype is due in part to an 11-bp loss-of-function deletion in the myostatin gene that has been fixed in the breed [1]), as well as to ongoing selection on as of yet unidentified polygenes influencing muscularity. Intense selection has substantially reduced the effective population size. The concomitant increase in the rate of inbreeding causes recurrent outbreaks of recessive defects. Inherited defects that have lately afflicted the BBCB include the recently described Congenital Muscular Dystonias (CMD) I and II [2]
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