GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002265
Main curator
Martin
PHENOTYPIC CHANGE
Trait #1
Trait Category
Trait State in Taxon A
Belgian Blue with average muscular mass for this breed
Trait State in Taxon B
Belgian Blue with enhanced muscular development in heterozygotes
Trait #2
Trait Category
Trait State in Taxon A
WT tail
Trait State in Taxon B
Crooked tail in homozygotes (not a selected trait)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
c.1906T>G p.C636G
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid Cys Gly 636
Authors
Fasquelle C; Sartelet A; Li W; Dive M; Tamma N; Michaux C; Druet T; Huijbers IJ; et al. ... show more
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.
RELATED GEPHE
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage @AllelicSeries @BalancingSelection compound heterozygotes of two alleles exist ; https://omia.org/OMIA001452/9913/
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