Demczuk S, Thomas G, Aurias A
INSERM U434, Institut Curie, Paris, France.
Hum Mol Genet. 1996 May;5(5):633-8. doi: 10.1093/hmg/5.5.633.
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.
迪格奥尔格综合征，更广泛地说即22q11.2缺失综合征，与染色体区域22q11.2的微缺失有关。一个500 kb的关键区域已被划定，与轻度22q11.2缺失综合征表型相关的平衡易位断点就位于该区域内。我们报告了从这个关键区域分离出一个新基因DGCR6，它位于平衡易位断点着丝粒侧115 kb处。DGCR6基因产物与参与性腺和生殖系细胞发育的果蝇性腺蛋白以及人层粘连蛋白γ-1链具有同源性，层粘连蛋白γ-1链与α链和β链聚合后形成层粘连蛋白分子。层粘连蛋白通过与受体相互作用与细胞结合，并在发育过程中具有细胞黏附、迁移和组织构建的功能。DGCR6可能通过在神经嵴细胞迁移到第三和第四咽囊过程中发挥作用而参与迪格奥尔格综合征的病理过程，第三和第四咽囊是迪格奥尔格综合征中受影响器官的起源结构。
