Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
15607004
TITLE
A deletion mutation in GDF9 in sisters with spontaneous DZ twins.
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.
DATE PUBLISHED
2004 Dec
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2004/12/21 09:00
medline 2005/05/20 09:00
entrez 2004/12/21 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Montgomery GW Montgomery Grant W GW Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia. grantM@qimr.edu.au
Zhao ZZ Zhao Zhen Zhen ZZ
Marsh AJ Marsh Anna J AJ
Mayne R Mayne Renee R
Treloar SA Treloar Susan A SA
James M James Michael M
Martin NG Martin Nicholas G NG
Boomsma DI Boomsma Dorret I DI
Duffy DL Duffy David L DL
INVESTIGATORS
JOURNAL
VOLUME: 7
ISSUE: 6
TITLE: Twin research : the official journal of the International Society for Twin Studies
ISOABBREVIATION: Twin Res
YEAR: 2004
MONTH: Dec
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1369-0523
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Twin Res
COUNTRY: Australia
ISSNLINKING: 1369-0523
NLMUNIQUEID: 9815819
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Twin Study
COMMENTS AND CORRECTIONS
GRANTS
GRANTID AGENCY COUNTRY
HD042157 NICHD NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Australia
Base Sequence
Bone Morphogenetic Protein 15
Chromatography, High Pressure Liquid methods
DNA genetics
DNA Mutational Analysis genetics
Female genetics
Genotype genetics
Growth Differentiation Factor 9 genetics
Haplotypes genetics
Humans genetics
Intercellular Signaling Peptides and Proteins genetics
Linkage Disequilibrium genetics
Male genetics
Mutation genetics
Netherlands genetics
Pedigree genetics
Polymerase Chain Reaction genetics
Polymorphism, Single Nucleotide genetics
Sequence Deletion genetics
Twins, Dizygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 BMP15 protein, human
0 Bone Morphogenetic Protein 15
0 GDF9 protein, human
0 Growth Differentiation Factor 9
0 Intercellular Signaling Peptides and Proteins
9007-49-2 DNA
OTHER ID's