GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000147
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Ovis aries
Trait State in Taxon B
Ovis aries - Hanna - 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 ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; 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 ... leostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Hanna
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
c.67C>T p.Q23*
Experimental Evidence
Taxon A Taxon B Position
Codon CAG TAG 67
Amino-acid Gln STP 23
Authors
Galloway SM; McNatty KP; Cambridge LM; Laitinen MP; Juengel JL; Jokiranta TS; McLaren RJ; Luiro K; et al. ... show more
Abstract
Multiple ovulations are uncommon in humans, cattle and many breeds of sheep. Pituitary gonadotrophins and as yet unidentified ovarian factors precisely regulate follicular development so that, normally, only one follicle is selected to ovulate. The Inverdale (FecXI) sheep, however, carries a naturally occurring X-linked mutation that causes increased ovulation rate and twin and triplet births in heterozygotes (FecXI/FecX+; ref. 1), but primary ovarian failure in homozygotes (FecXI/FecXI; ref. 2). Germ-cell development, formation of the follicle and the earliest stages of follicular growth are normal in FecXI/FecXI sheep, but follicular development beyond the primary stage is impaired. A second family unrelated to the Inverdale sheep also has the same X-linked phenotype (Hanna, FecXH). Crossing FecXI with FecXH animals produces FecXI/FecXH infertile females phenotypically indistinguishable from FecXI/FecXI females. We report here that the FecXI locus maps to an orthologous chromosomal region syntenic to human Xp11.2-11.4, which contains BMP15, encoding bone morphogenetic protein 15 (also known as growth differentiation factor 9B (GDF9B)). Whereas BMP15 is a member of the transforming growth factor beta (TGFbeta) superfamily and is specifically expressed in oocytes, its function is unknown. We show that independent germline point mutations exist in FecXI and FecXH carriers. These findings establish that BMP15 is essential for female fertility and that natural mutations in an ovary-derived factor can cause both increased ovulation rate and infertility phenotypes in a dosage-sensitive manner.
Additional References
RELATED GEPHE
Related Haplotypes
8
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage @SexualTrait https://omia.org/OMIA001350/9940/
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