Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.
We have analyzed the transmission of maternal alleles at loci spanning the length of the X chromosome in 47 normal, genetic disease-free families. We found a significant deviation from the expected Mendelian 1:1 ratio of grandpaternal:grandmaternal alleles at loci in Xp11.4-p21.1. The distortion in inheritance ratio was found only among male offspring and was manifested as a strong bias in favor of the inheritance of the alleles of the maternal grandfather. We found no evidence for significant heterogeneity among the families, which implies that the major determinant involved in the generation of the non-Mendelian ratio is epigenetic. Our analysis of recombinant chromosomes inherited by male offspring indicates that an 11.6-cM interval on the short arm of the X chromosome, bounded by DXS538 and DXS7, contains an imprinted gene that affects the survival of male embryos.
Naumova
A K
AK
Fels Institute for Cancer Research, Temple University School of Medicine, Philadelpha, PA 19140, USA.
Leppert
M
M
Barker
D F
DF
Morgan
K
K
Sapienza
C
C
D000818:Animals; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D051379:Mice; D011995:Recombination, Genetic; D014960:X Chromosome