PHOG, a candidate gene for involvement in the short stature of Turner syndrome
PHOG, a candidate gene for involvement in the short stature of Turner syndrome
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DOI：
10.1093/hmg/6.8.1341
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发表时间：
1997-08-01
影响因子：
3.5
通讯作者：
Chiong, W
中科院分区：
文献类型：
--
作者：
Ellison, JW;Wardak, Z;Chiong, W
Turner综合征(X单体)中出现的异常可能是由于X染色体上某些基因的单倍体不足所致，基因剂量考虑导致预测这些可归咎基因逃避X失活并在Y染色体上具有功能同源物，其中具有这些特征的基因位于性染色体的伪常染色体区域(PAR)，基于对短臂PAR特定片段缺失的患者的分析，提出了与身高有关的剂量敏感基因的伪常染色体定位；我们已经从关键缺失区域中分离到一个基因，该基因编码一种新的同源结构域转录因子，在成骨细胞中表达水平最高，我们将该基因命名为Phog，即含有伪常染色体同源框的成骨基因，它在矮小患者中的缺失，在45，X个个体中的预测改变剂量，以及编码蛋白的性质和它的表达模式，使Phog成为参与Turner综合征矮小的候选基因。我们还发现Phog的小鼠同源基因是常染色体，这可能有助于解释X单体小鼠缺乏生长异常。
The abnormalities seen in Turner syndrome (monosomy X) presumably result from haploinsufficiency of certain genes on the X chromosome, Gene dosage considerations lead to the prediction that the culpable genes escape X inactivation and have functional homologs on the Y chromosome, Among the genes with these characteristics are those residing in the pseudoautosomal regions (PAR) of the sex chromosomes, A pseudoautosomal location for a dosage-sensitive locus involved in stature has been suggested based on the analyses of patients with deletions of a specific segment of the short arm PAR; hemizygosity for this putative locus probably also contributes to the short stature in Turner individuals, We have isolated a gene from the critical deleted region that encodes a novel homeodomain-containing transcription factor and is expressed at highest levels in osteogenic cells, We have named the gene PHOG, for pseudoautosomal homeobox-containing osteogenic gene, Its deletion in patients with short stature, the predicted altered dosage in 45,X individuals, along with the nature of the encoded protein and its expression pattern, make PHOG an attractive candidate for involvement in the short stature of Turner syndrome. We have also found that the mouse homolog of PHOG is autosomal, which may help to explain the lack of a growth abnormality in mice with monosomy X.