A deletion mutation in GDF9 in sisters with spontaneous DZ twins

Montgomery, G. W., Zhao, Z. Z., Marsh, A. J., Mayne, R., Treloar, S. A., James, M., Martin, N. G., Boomsma, D. I. and Duffy, D. L. (2004) A deletion mutation in GDF9 in sisters with spontaneous DZ twins. Twin Research, 7 6: 548-555.


Author Montgomery, G. W.
Zhao, Z. Z.
Marsh, A. J.
Mayne, R.
Treloar, S. A.
James, M.
Martin, N. G.
Boomsma, D. I.
Duffy, D. L.
Title A deletion mutation in GDF9 in sisters with spontaneous DZ twins
Journal name Twin Research  (ERA 2012 Listed)    (ERA 2010 Rank B)   Check publisher's open access policy
Publication date 2004
Sub-type Article
DOI 10.1375/1369052042663823
Volume number 7
Issue number 6
ISSN 1369-0523
Start page 548
End page 555
Total pages 8
Editor N. G. Martin
K. M. Kirk
Place of publication Bowen Hills, Australia
Publisher Australian Academic Press
Collection year 2004
Language eng
Subject C1
321011 Medical Genetics
730107 Inherited diseases (incl. gene therapy)
Abstract A loss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.
Keyword Genetics & Heredity
Obstetrics & Gynecology
Reproductive Biology
Spontaneous Dizygotic Twins
Increased Ovulation Rate
Growth-differentiation Factor-9
Bone Morphogenetic Protein-15
Ovarian-function
Follicle
Mothers
Sheep
Oocytes
Cells
Q-Index Code C1

 
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