Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females

Journal Article · Sat Apr 01 04:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.7.2296· OSTI ID:5352694

Levilliers, J; Quack, B; Weissenbach, J; Petit, C ^[1]

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1. Institut Pasteur, Paris (France)

Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, the authors followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true counter type of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the under representation of interchange 46,XY females compared with Y(+) XX males.

• OSTI ID: 5352694
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 86:7; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AUTORADIOGRAPHY
CELL DIVISION
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DIAGNOSIS
DNA HYBRIDIZATION
HETEROCHROMOSOMES
HYBRIDIZATION
HYDROGEN COMPOUNDS
KARYOTYPE
MEIOSIS
MUTATIONS
NUCLEOTIDES
ORGANIC COMPOUNDS
PATIENTS
TRITIUM COMPOUNDS
X CHROMOSOME
Y CHROMOSOME