|
|
| PMID |
|
|
| 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. |
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| DATE PUBLISHED |
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| 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 |
|
|
|
