Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning

Luong, Hein T. T., Chaplin, Justin, McRae, Allan F., Medland, Sarah E., Willemsen, Gonneke, Nyholt, Dale R., Henders, Anjali K., Hoekstra, Chantal, Duffy, David L., Martin, Nicholas G., Boomsma, Dorret I., Montgomery, Grant W. and Painter, Jodie N. (2011) Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning. Twin Research and Human Genetics, 14 5: 408-416. doi:10.1375/twin.14.5.408

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Author Luong, Hein T. T.
Chaplin, Justin
McRae, Allan F.
Medland, Sarah E.
Willemsen, Gonneke
Nyholt, Dale R.
Henders, Anjali K.
Hoekstra, Chantal
Duffy, David L.
Martin, Nicholas G.
Boomsma, Dorret I.
Montgomery, Grant W.
Painter, Jodie N.
Title Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning
Journal name Twin Research and Human Genetics   Check publisher's open access policy
ISSN 1832-4274
Publication date 2011-10
Sub-type Article (original research)
DOI 10.1375/twin.14.5.408
Volume 14
Issue 5
Start page 408
End page 416
Total pages 9
Place of publication Cambridge, England, U.K.
Publisher Cambridge University Press
Collection year 2012
Language eng
Formatted abstract
Genes in the TGF9 signaling pathway play important roles in the regulation of ovarian follicle growth and ovulation rate. Mutations in three genes in this pathway, growth differentiation factor 9 (GDF9), bone morphogenetic protein 15 (BMP15) and the bone morphogenetic protein receptor B 1 (BMPRB1), influence dizygotic (DZ) twinning rates in sheep. To date, only variants in GDF9 and BMP15, but not their receptors transforming growth factor &βετ α; receptor 1 (TGFBR1), bone morphogenetic protein receptor 2 (BMPR2) and BMPR1B, have been investigated with respect to their roles in human DZ twinning. We screened for rare and novel variants in TGFBR1, BMPR2 and BMPR1B in mothers of dizygotic twins (MODZT) from twin-dense families, and assessed association between genotyped and imputed variants and DZ twinning in another large sample of MODZT. Three novel variants were found: a deep intronic variant in BMPR2, and one intronic and one non-synonymous exonic variant in BMPRB1 which would result in the replacement of glutamine by glutamic acid at amino acid position 294 (p.Gln294Glu). None of these variants were predicted to have major impacts on gene function. However, the p.Gln294Glu variant changes the same amino acid as a sheep BMPR1B functional variant and may have functional consequences. Six BMPR1B variants were marginally associated with DZ twinning in the larger case-control sample, but these were no longer significant once multiple testing was taken into account. Our results suggest that variation in the TGF9 signaling pathway type II receptors has limited effects on DZ twinning rates in humans.
Keyword Dizygotic Twinning
High resolution melting
Bone Morphogenetic Protein-15
Increased Ovulation Rate
Ovarian Failure
Germline Mutations
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
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Created: Wed, 07 Mar 2012, 16:29:06 EST by Kylie Hengst on behalf of School of Medicine