Human Molecular Genetics, 2000, Vol. 9, No. 4 515-523
© 2000 Oxford University Press
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
Department of Genetics, Emory University School of Medicine, 1462 Clifton Road North-East, Atlanta, GA 30322, USA, 1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261, USA and 2Marshfield Medical Research Foundation, 1000 North Oak Avenue, Marshfield, WI 54449, USA
Altered recombination patterns along non-disjoined chromosomes is the first molecular correlate identified for non-disjunction in humans. To understand better the factors related to this correlate, we have asked to what extent is recombination altered in an egg with a disomic chromosome: are patterns limited to the non-disjoined chromosome or do they extend to the entire cell? More specifically, we asked whether there is reduced recombination in the total genome of an egg with a non-disjoined chromosome 21 and no detectable recombination. We chose this subclass of non-disjoined chromosomes to enrich potentially for extremes in recombination. We found a statistically significant cell-wide reduction in the mean recombination rate in these eggs with non-disjoined chromosomes 21; no specific chromosomes were driving this effect. Most importantly, we found that this reduction was consistent with normal variation in recombination observed among eggs. Thus, given that recombination is a multifactorial trait, these data suggest that when the number of genome-wide recombination events is less than some threshold, specific chromosomes may be at an increased risk for non-disjunction. Further studies are required to confirm these results, to determine the importance of genetic and environmental factors that regulate recombination and to determine their impact on non-disjunction.
+ To whom correspondence should be addressed. Tel: +1 404 727 8805; Fax: +1 404 727 3949; Email: asavage@genetics.emory.edu
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