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PMID: 2847915 Published · ppublish English Comparative Study Journal Article

Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map.

The EMBO journal ·Vol. 7 ·No. 8 ·1988-08-00 ·Pages 2369-76

Petit C, Levilliers J, Weissenbach J

Abstract

A long-range restriction map of the pseudo-autosomal or exchange pairing region (corresponding to the terminal parts of the short arms of the human sex chromosomes) has been established using pulsed field gel electrophoresis. A total of seven loci have been located on this physical map based essentially on the analysis of 45,X Turner genomes. The region spans a total of 2600 kb. The 5' end of the MIC2 gene maps at less than 80 kb from the proximal pseudo-autosomal boundary. Since the total pseudo-autosomal linkage interval represents approximately 50% of recombination at male meiosis, 1 cM corresponds to 50-60 kb. This is consistent with the almost 20-fold increase in recombination frequency observed in male versus female meiosis in this region. The present data show no distortion between both physical and linkage maps. The distribution of the CpG-rich restriction sites is notably disequilibrated. A large subset of these sites is concentrated within the 500 kb closest to the telomere whereas others appear in clusters (probably HTF islands) scattered in the rest of the pseudo-autosomal region.

MeSH Terms
Blotting, Southern Chromosome Mapping DNA/genetics DNA Restriction Enzymes Electrophoresis, Agar Gel Female Genetic Linkage Humans Male Meiosis Nucleic Acid Hybridization Sex Chromosomes Turner Syndrome/genetics
Chemicals
DNA DNA Restriction Enzymes
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Petit C
Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, Paris, France.
Levilliers J
Weissenbach J
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Article Info
Journal
The EMBO journal
Abbr.
EMBO J
ISSN
0261-4189
Published
1988-08-00
Pages
2369-76
Language
English
Region
England
NLM ID
8208664
PMCID
PMC457102
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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