Aubry M, Demczuk S, Desmaze C, Aikem M, Aurias A, Julien J P, Rouleau G A
Center for Research in Neuroscience, Montreal General Hospital, Quebec, Canada.
Hum Mol Genet. 1993 Oct;2(10):1583-7. doi: 10.1093/hmg/2.10.1583.
DiGeorge syndrome is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and conotruncal heart defects. We recently isolated four genes with zinc finger DNA binding motifs mapping to chromosome 22q11.2 DiGeorge critical region. We now report that one of them, ZNF74 gene, is hemizygously deleted in 23 out of 24 DiGeorge syndrome patients tested. ZNF74 mRNA transcripts are detected in human and mouse embryos but not in adult tissues. Sequence analysis of a corresponding cDNA reveals an an open reading frame encoding 12 zinc finger motifs of the Kruppel/TFIIIA type as well as N-terminal and C-terminal non-zinc finger domains. These results suggest that changes in the dosage of a putative transcription factor through ZNF74 hemizygous deletion may be critical for DiGeorge developmental anomalies.
迪格奥尔格综合征是一种人类发育障碍疾病，会导致胸腺和甲状旁腺发育不全以及圆锥动脉干心脏缺陷。我们最近分离出了四个带有锌指DNA结合基序的基因，这些基因定位于22q11.2染色体迪格奥尔格关键区域。我们现在报告，在检测的24例迪格奥尔格综合征患者中，有23例该区域的ZNF74基因半合子缺失。在人和小鼠胚胎中可检测到ZNF74 mRNA转录本，但在成体组织中未检测到。对相应cDNA的序列分析揭示了一个开放阅读框，其编码12个克鲁ppel/TFIIIA型锌指基序以及N端和C端非锌指结构域。这些结果表明，通过ZNF74半合子缺失导致的假定转录因子剂量变化可能是迪格奥尔格发育异常的关键因素。
