The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes

We have analysed the sequence organization of the pseudoautosomal region at the telomeres of the long arms of the human sex chromosomes and shown that it is 320 kb long. A LINE sequence is present on both the X and Y chromosomes immediately adjacent to the breakpoint in homology suggesting that the...

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Bibliographic Details
Published inHuman molecular genetics Vol. 3; no. 5; p. 771
Main Authors Kvaløy, K, Galvagni, F, Brown, W R
Format Journal Article
LanguageEnglish
Published England 01.05.1994
Subjects
Base Sequence
Chromosome Mapping
Female
Gene Conversion
Humans
Male
Models, Genetic
Molecular Sequence Data
Recombination, Genetic
Repetitive Sequences, Nucleic Acid
Sequence Alignment
Sequence Homology, Nucleic Acid
Translocation, Genetic
X Chromosome
Y Chromosome
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Summary:We have analysed the sequence organization of the pseudoautosomal region at the telomeres of the long arms of the human sex chromosomes and shown that it is 320 kb long. A LINE sequence is present on both the X and Y chromosomes immediately adjacent to the breakpoint in homology suggesting that the homology arose as a result of an ectopic recombination event mediated by LINE sequences originally present in non-homologous stretches of X and Y chromosomal DNA. This led to the translocation of sequences from the X chromosome telomere onto the Y chromosome and created a new pseudoautosomal region.
ISSN:0964-6906
DOI:10.1093/hmg/3.5.771