Lindsay E A, Baldini A
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Cytogenet Cell Genet. 1997;79(3-4):243-7. doi: 10.1159/000134736.
We report the identification of a mouse gene, Dgcr6, which shows high sequence similarity to gonadal (gdl), a Drosophila gene of unknown function. Dgcr6 is the mouse homolog of human DGCR6, previously shown to be deleted in DiGeorge syndrome, a developmental field defect affecting the derivatives of the pharyngeal arches which is associated with 22q11.2 deletions. The Dgcr6 transcript has a 594 nucleotide open reading frame (ORF) encoding 198 amino acids. We previously mapped Dgcr6 to mouse chromosome 16B1-B3, a region known to contain other mouse homologs of genes deleted in DiGeorge syndrome. Expression studies were performed by Northern blotting analysis on mouse embryo and adult tissues and by RNA in situ hybridization on mouse embryo sections. Results show that Dgcr6 transcripts are abundant during mouse embryogenesis, from at least 7 days post coitum. In particular, high expression was detected in the brain, spinal cord and pharyngeal arches. On adult tissues high expression was detected in testis. The function of Dgcr6 is to be determined, but its developmental expression suggests that this gene may play a role in the developmental defects associated with 22q11.2 deletions.
我们报告了一个小鼠基因Dgcr6的鉴定结果，该基因与果蝇中一个功能未知的基因gonadal（gdl）具有高度的序列相似性。Dgcr6是人类DGCR6的小鼠同源基因，先前已证明在DiGeorge综合征中该基因会缺失，DiGeorge综合征是一种影响咽弓衍生物的发育场缺陷，与22q11.2缺失相关。Dgcr6转录本有一个594个核苷酸的开放阅读框（ORF），编码198个氨基酸。我们先前将Dgcr6定位到小鼠染色体16B1 - B3，该区域已知包含在DiGeorge综合征中缺失的其他基因的小鼠同源基因。通过对小鼠胚胎和成年组织进行Northern印迹分析以及对小鼠胚胎切片进行RNA原位杂交来进行表达研究。结果表明，Dgcr6转录本在小鼠胚胎发育过程中至少从受精后7天起就大量存在。特别是在脑、脊髓和咽弓中检测到高表达。在成年组织中，在睾丸中检测到高表达。Dgcr6的功能有待确定，但其发育表达表明该基因可能在与22q11.2缺失相关的发育缺陷中起作用。
