Identification of a Second Pseudoautosomal Region Near the Xq and Yq Telomeres

• Published in: Science (American Association for the Advancement of Science) Vol. 258; no. 5089; pp. 1784 - 1787
• Main Authors: Freije, Diha, Helms, Cynthia, Watson, Michael S., Donis-Keller, Helen
• Format: Journal Article
• Language: English
• Published: Washington, DC American Society for the Advancement of Science 11.12.1992; American Association for the Advancement of Science
• Subjects: Alleles; Animals; Base Sequence; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BIOLOGICAL MARKERS; CELL DIVISION; Cell Line; Chromosome Banding; Chromosome Mapping; CHROMOSOMES; Chromosomes, Fungal; Classical genetics, quantitative genetics, hybrids; CLONING; Cloning, Molecular; Cosmids; DNA; DNA - genetics; EUMYCOTA; Factor VIII - genetics; Female; Fundamental and applied biological sciences. Psychology; FUNGI; Gene Conversion; GENE RECOMBINATION; Genetic inheritance; Genetic Linkage; Genetic loci; GENETIC MAPPING; Genetic recombination; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes; HETEROCHROMOSOMES; Human; HUMAN CHROMOSOMES; HUMAN X CHROMOSOME; HUMAN Y CHROMOSOME; Humans; Hybrid Cells; In situ hybridization; Male; man; MAPPING; MEIOSIS; MICROORGANISMS; Molecular Sequence Data; NUCLEIC ACIDS; Oligodeoxyribonucleotides; ORGANIC COMPOUNDS; Pedigree; PLANTS; Polymerase Chain Reaction - methods; recombination; Recombination, Genetic; regions; Rodentia; Saccharomyces cerevisiae - genetics; Sequence Homology, Nucleic Acid; Sex chromosomes; Telomere - physiology; Telomere - ultrastructure; Telomeres; X CHROMOSOME; Y Chromosome; Y CHROMOSOME 550400 > Genetics; YEASTS; Genetic mapping; Human; Linkage; Centromere; Genetic marker; Inheritance; Chromosome DNA; Homology; X-Chromosome; Y-Chromosome; Yeast artificial chromosome; Molecular cloning
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.1465614

The telomeres of Xq and Yq have been observed to associate during meiosis, and in rare cases a short synaptonemal complex is present. Molecular cloning of loci from Xqter and Yqter has revealed that their sequence homology extends over 400 kilobases, which suggests the possibility of genetic exchange. This hypothesis was tested by the development of two highly informative microsatellite markers from yeast artificial chromosome clones that carried Xqter sequences and the following of their inheritance in a set of reference pedigrees from the Centre d'Etude du Polymorphisme Humain in Paris, France. From a total of 195 informative male meioses, four recombination events between these loci were observed. In three cases, paternal X alleles were inherited by male offspring, and in one case a female offspring inherited her father's Y allele. These data support the existence of genetic exchange at Xq-Yq, which defines a second pseudoautosomal region between the sex chromosomes.