GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002158
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Ovis aries
Trait State in Taxon B
Ovis aries - Rasa Aragonesa - Increased ovulation rate; Heterozygote shows phenotype; homozygote results in ovarian failure
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
sheep
Synonyms
Ovis ammon aries; Ovis orientalis aries; Ovis ovis; sheep; domestic sheep; lambs; wild sheep; Ovis aries Linnaeus, 1758
Rank
species
Lineage
Show more ... Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Rasa Aragonesa
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
10-99 bp
Molecular Details of the Mutation
c.525_541del17 p.Pro45Asnfs*54
Experimental Evidence
Authors
Martinez-Royo A; Jurado JJ; Smulders JP; Martí JI; Alabart JL; Roche A; Fantova E; Bodin L; et al. ... show more
Abstract
Bone morphogenetic protein 15 (BMP15) is a member of the transforming growth factor beta superfamily, is specifically expressed in oocytes and is essential for sheep prolificacy. Reported mutations in this gene cause increased ovulation rate and infertility in a dosage-sensitive manner. In this work, a new naturally occurring mutation in the BMP15 gene from the ovine Rasa Aragonesa breed is described. This mutation is a deletion of 17 bp that leads to an altered amino acid sequence and introduces a premature stop codon in the protein. Highly significant associations (P < 0.0001) were found between the estimated breeding value for prolificacy and the genotype of BMP15 in Rasa Aragonesa animals with high and low breeding values for this trait. As for other mutations in BMP15, this new mutation is associated with increased prolificacy and sterility in heterozygous and homozygous ewes respectively.
RELATED GEPHE
Related Haplotypes
9
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage @SexualTrait https://omia.org/OMIA001800/9940/
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