Kang S, Rosenberg M, Ko V D, Biesecker L G
Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.
Hum Genet. 1997 Dec;101(2):154-7. doi: 10.1007/s004390050605.
The GLI3 gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiology of Pallister-Hall syndrome, we required knowledge of the fine structure of GLI3 to perform detailed genetic and physical mapping and mutation screening of this gene. The coding region of GLI3 is composed of 14 exons, including a large exon of more than 2500 bp. In addition, the gene contains two intragenic dinucleotide repeats, and four single-base pair polymorphisms in the coding region. We have used these coding region polymorphisms to design an allele-specific expression study that will be useful for studying patients with Greig cephalopolysyndactyly syndrome. In addition, GLI3 should be considered a candidate gene for related developmental anomalies of humans. Such hypotheses will be more readily addressed with the availability of the fine structure of the gene and the allele-expression assay.
GLI3基因编码一种假定的锌指转录因子，该因子在脊椎动物早期发育中起重要作用。该基因的单倍剂量不足与Greig头多指（趾）综合征有关，而截短突变会导致Pallister-Hall综合征。在确定Pallister-Hall综合征病因的研究过程中，我们需要了解GLI3的精细结构，以便对该基因进行详细的遗传和物理图谱绘制以及突变筛查。GLI3的编码区由14个外显子组成，包括一个超过2500 bp的大外显子。此外，该基因包含两个基因内二核苷酸重复序列，以及编码区内的四个单碱基对多态性。我们利用这些编码区多态性设计了一项等位基因特异性表达研究，该研究将有助于研究Greig头多指（趾）综合征患者。此外，GLI3应被视为人类相关发育异常的候选基因。随着该基因精细结构和等位基因表达检测方法的出现，此类假设将更容易得到验证。
