Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells

被引:438
作者
Wilson, T [1 ]
Wu, XY
Juengel, JL
Ross, IK
Lumsden, JM
Lord, EA
Dodds, KG
Walling, GA
McEwan, JC
O'Connell, AR
McNatty, KP
Montgomery, GW
机构
[1] Univ Otago, Dept Biochem, AgRes, Mol Biol Unit, Dunedin, New Zealand
[2] AgRes, Wallaceville Anim Res Ctr, Upper Hutt, New Zealand
[3] AgRes, Invermay Agr Ctr, Mosgiel, New Zealand
[4] Roslin Inst, Roslin EH25 9PS, Midlothian, Scotland
[5] Queensland Inst Med Res, Brisbane, Qld 4006, Australia
关键词
granulosa cells; kinases; ovulation; signal transduction;
D O I
10.1095/biolreprod64.4.1225
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
The Booroola fecundity gene (FecB) increases ovulation rate and litter size in sheep and is inherited as a single autosomal locus. The effect of FecB is additive for ovulation rate (increasing by about 1.6 corpora lutea per cycle for each copy) and has been mapped to sheep chromosome 6q23-31, which is syntenic to human chromosome 4q21-25. Bone morphogenetic protein IB (BMP-IB) receptor (also known as ALK-6), which binds members of the transforming growth factor-beta (TGF-beta) superfamily, is located in the region containing the FecB locus. Booroola sheep have a mutation (Q249R) in the highly conserved intracellular kinase signaling domain of the BMP-IB receptor. The mutation segregated with the FecB phenotype in the Booroola backcross and half-sib flocks of sheep with no recombinants. The mutation was not found in individuals from a number of sheep breeds not derived from the Booroola strain. BMPR-IB was expressed in the ovary and in situ hybridization revealed its specific location to the oocyte and the granulosa cell. Expression of mRNA encoding the BMP type II receptor was widespread throughout the ovary. The mutation in BMPR-IB found in Booroola sheep is the second reported defect in a gene from the TGF-beta pathway affecting fertility in sheep following the recent discovery of mutations in the growth factor, GDF96/BMP15.
引用
收藏
页码:1225 / 1235
页数:11
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