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

Citation
T. Wilson et al., Highly prolific Booroola sheep have a mutation in the intracellular kinasedomain of bone morphogenetic protein IB receptor (ALK-6) that is expressedin both oocytes and granulosa cells, BIOL REPROD, 64(4), 2001, pp. 1225-1235
Citations number
59
Categorie Soggetti
da verificare
Journal title
BIOLOGY OF REPRODUCTION
ISSN journal
00063363 → ACNP
Volume
64
Issue
4
Year of publication
2001
Pages
1225 - 1235
Database
ISI
SICI code
0006-3363(200104)64:4<1225:HPBSHA>2.0.ZU;2-Z
Abstract
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 c ycle 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 transformin g growth factor-beta (TGF-beta) superfamily, is located in the region conta ining 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 i n individuals from a number of sheep breeds not derived from the Booroola s train. BMPR-IB was expressed in the ovary and in situ hybridization reveale d 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 de fect in a gene from the TGF-beta pathway affecting fertility in sheep follo wing the recent discovery of mutations in the growth factor, GDF96/BMP15.