Hultén, Maj A., Patel, Suketu, Jonasson, Jon and Iwarsson, Erik (2010) On the origin of the maternal age effect in trisomy 21 Down syndrome : the Oocyte Mosaicism Selection model. Reproduction, Vol.139 (No.1). pp. 1-9. ISSN 1470-1626

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Abstract

We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. in particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent large-scale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women. Reproduction (2010) 139 1-9

Item Type:	Journal Item
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine
Divisions:	Faculty of Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Down syndrome -- Pathogenesis, Human chromosome 21, Heredity, Human, Human genetics, Maternal age, Mosaicism
Journal or Publication Title:	Reproduction
Publisher:	Biocentifica
ISSN:	1470-1626
Date:	January 2010
Volume:	Vol.139
Number:	No.1
Number of Pages:	9
Page Range:	pp. 1-9
Identification Number:	10.1530/REP-09-0088
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access
Funder:	Wellcome Trust (London, England), Biotechnology and Biological Sciences Research Council (Great Britain) (BBSRC), Sweden. Vetenskapsrådet [Research Council], Stockholm County Council
Grant number:	061202/ZOOZ (WT), BB/C003500/1 (BBSRC)
URI:	http://wrap.warwick.ac.uk/id/eprint/16618

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