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.
This work investigated effects of carrying 0, 1, or 2 copies of the A allele resulting from the g+6723G-A transition in growth differentiation factor gene (GDF8) in New Zealand Texel-cross sheep at different lamb ages and carcass weights. Two Texel-cross sires carrying 1 copy of the A allele were mated to approximately 200 ewes carrying 0, 1, or 2 copies of the A allele. A total of 187 progeny were generated and genotyped to determine whether they were carrying 0, 1, or 2 copies of the A allele. The progeny were assigned to 1 of 4 slaughter groups balanced for the 3 genotypes, sex, and sire. The 4 groups were slaughtered commercially when their average BW (across all progeny in the slaughter group) reached 33, 40, 43, and 48 kg, respectively. Measurements of BW, and carcass dimensions and yield were made on all animals using Viascan (a commercial 2-dimensional imaging system that estimates lean content of the carcass as a percentage of total carcass weight). Additional measurements were made on the fourth slaughter group, which was computed tomography scanned at each slaughter time point to obtain 4 serial measures of lean and fat as estimated from the computed tomography images. The A allele did not have an effect on any BW traits. The A allele was associated with increased muscle and decreased fat across the variety of measures of muscling and fat, explaining between 0.2 and 1.1 of a residual SD unit. Estimates for an additive effect were significant and were positive for muscle and negative for fat traits. No dominance effect estimates (positive or negative) were significant. There was no significant interaction between A allele number and carcass weight or slaughter group for any trait. This is the first systematic study of the effect of the A allele copy number over a range of carcass weights (13 to 20 kg) and ages and results suggest the size of the effect across these endpoints is proportionately the same. Testing for the A allele therefore offers breeders the potential to improve rates of genetic gain for lean-meat yield across most production systems.
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