X/Y Translocations Resulting from Recombination Between Homologous Sequences on Xp and Yq

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 88; no. 20; pp. 8944 - 8948
• Main Authors: Yen, Pauline H., Tsai, Siao-Ping, Wenger, Sharon L., Steele, Mark W., Mohandas, Thuluvancheri K., Shapiro, Larry J.
• Format: Journal Article
• Language: English
• Published: Washington, DC National Academy of Sciences of the United States of America 15.10.1991; National Acad Sciences
• Subjects: 550200 - Biochemistry; Base Sequence; BASIC BIOLOGICAL SCIENCES; BETA DECAY RADIOISOTOPES; BETA-MINUS DECAY RADIOISOTOPES; Biological and medical sciences; Cell lines; Cells, Cultured; CHROMOSOMAL ABERRATIONS; CHROMOSOME BREAKAGE; Chromosome translocation; CHROMOSOMES; Cloning, Molecular; DAYS LIVING RADIOISOTOPES; DNA - genetics; DNA - isolation & purification; Female; Fundamental and applied biological sciences. Psychology; GENE RECOMBINATION; Genetic loci; GENETIC MAPPING; Genetic Markers; Genic rearrangement. Recombination. Transposable element; Genomic Library; Genomics; HETEROCHROMOSOMES; HUMAN CHROMOSOMES; HUMAN X CHROMOSOME; HUMAN Y CHROMOSOME; Humans; ISOTOPES; KARYOTYPE; Karyotyping; LIGHT NUCLEI; Male; MAPPING; Middle Aged; Molecular and cellular biology; MOLECULAR BIOLOGY; Molecular genetics; Molecular Sequence Data; MUTATIONS; NUCLEI; ODD-ODD NUCLEI; PATIENTS; PHOSPHORUS 32; PHOSPHORUS ISOTOPES; RADIOISOTOPES; Restriction Mapping; Sequence homology; Sex chromosomes; TRANSLOCATION; Translocation, Genetic; X CHROMOSOME; Y CHROMOSOME; Chromosomal aberration; Human; Nucleotide sequence; Cleavage site; Abnormal chromosome; Homology; X-Chromosome; Y-Chromosome; Chromosome translocation
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.88.20.8944

Several regions of sequence homology between the human X and Y chromosomes have been identified. These segments are thought to represent areas of these chromosomes that have engaged in meiotic recombination in relatively recent evolutionary times. Normally, the X and Y chromosomes pair during meiosis and exchange DNA only within the pseudoautosomal region at the distal short arms of both chromosomes. However, it has been suggested that aberrant recombination involving other segments of high homology could be responsible for the production of X/Y translocations. We have studied four X/Y translocation patients using molecular probes detecting homologous sequences on X and Y chromosomes. In one translocation the breakpoints have been isolated and sequenced. The mapping data are consistent with the hypothesis that X/Y translocations arise by homologous recombination. The sequencing data from one translocation demonstrate this directly.