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A cytokine receptor gene cluster in the X-Y pseudoautosomal region?
E Kremer, E Baker, RJ D'Andrea, R Slim, H Phillips, PA Moretti, AF Lopez, C Petit, MA Vadas and GR Sutherland
Department of Cytogenetics and Molecular Genetics, Women's and Children's
Hospital, North Adelaide, Australia.
The receptors for interleukin-3 (IL-3), IL-5, and granulocyte- macrophage
colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand
specific alpha chains and a common beta chain. The genes encoding the IL-5
receptor alpha chain and the common beta chain reside on chromosome 3 and
22 respectively, while the GM-CSF receptor alpha chain gene (CSF2RA) has
been mapped to the pseudoautosomal region (PAR) of the sex chromosomes,
which is a 2.6-Mb stretch of homologous sequence at the tips of the short
arms within which a single obligatory recombination occurs during male
meiosis. We have mapped the gene encoding the IL-3 receptor alpha chain
(IL3RA) to the sex chromosomes by polymerase chain reaction (PCR) analysis
of human-mouse or human- chinese hamster cell hybrids, and to Yp13.3 and
Xp22.3 using fluorescence in situ hybridization. To explore the possibility
that IL3RA is located within the pseudoautosomal region we screened the
Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees for an
informative-restriction fragment-length polymorphism (RFLP) that showed
male meiotic recombination. Two informative CEPH pedigrees were identified
that displayed this phenomenon, confirming the psuedoautosomal location of
IL3RA. Using long-range restriction mapping we have found that IL3RA maps
to the same 190-kb restriction fragment as CSF2RA, suggesting that a
cytokine receptor gene cluster may reside in the PAR.
Volume 82,
Issue 1,
pp. 22-28,
07/01/1993
Copyright © 1993 by The American Society of Hematology
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