Human Molecular Genetics, Vol 5, 633-638, Copyright © 1996 by Oxford University Press
S Demczuk, G Thomas and A Aurias
DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated
with microdeletions in chromosomal region 22q11.2. A critical region of 500
kb has been delimited within which maps the breakpoint of a balanced
translocation associated with mild CATCH 22 phenotypes. We report the
isolation from this critical region of a novel gene, DGCR6, which maps 115
kb centromeric to the balanced translocation breakpoint. The DGCR6 gene
product shares homology with the Drosophila melanogaster gonadal protein,
which participates in gonadal and germ-line cells development, and with the
human laminin. gamma-1 chain, which upon polymerization with alpha- and
beta- chains forms the laminin molecule. Laminin binds to cells through
interaction with a receptor and has functions in cell attachment, migration
and tissue organization during development. DGCR6 could be a candidate for
involvement in the DiGeorge syndrome pathology by playing a role in neural
crest cell migration into the third and fourth pharyngeal pouches, the
structures from which derive the organs affected in DiGeorge syndrome.
ARTICLES
Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes
INSERM U434, Institut Curie, Paris, France.
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