caa a22 4500 397575858 CHVBK 20180308164856.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.633 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.633 Isolation of a Novel Gene from the DiGeorge Syndrome Critical Region with Homology to Drosophila gdl and to Human LAMC1 Genes [Elektronische Daten] [Suzanne Demczuk, Gilles Thomas, Alain 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 γ-1 chain, which upon polymerization with α- and β- 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. DGCR6could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pha-ryngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome. © 1996 Oxford University Press Demczuk Suzanne INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut Thomas Gilles INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut Aurias Alain INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 633-638 0964-6906 5:5<633 1996 5 hmg https://doi.org/10.1093/hmg/5.5.633 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.633 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Demczuk Suzanne INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut NATIONALLICENCE 700 1- Thomas Gilles INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut NATIONALLICENCE 700 1- Aurias Alain INSERM U434, Institut Curie, Section de Recherche, 26 rue d'Ulm, 75231, Paris Cedex 05, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 633-638 0964-6906 5:5<633 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford