SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development
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DOI：
10.1073/pnas.95.5.2406
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发表时间：
1998-03-03
影响因子：
11.1
通讯作者：
Rappold, GA
中科院分区：
文献类型：
--
作者：
Blaschke, RJ;Monaghan, AP;Rappold, GA
人类性染色体上的SHOX区域的缺失已被证明会导致特发性身材矮小，并被认为在与特纳综合征相关的身材矮小中发挥作用。通过与人类SHOX和小鼠OG-12基因的同源性，我们发现了一个人类配对相关的同源盒基因SHOT。两个不同的同种异构体SHOTa和SHOTb具有相同的同源结构域，并且具有颅面表达同源结构域蛋白的c端14个氨基酸残基特征。SHOTa和b之间的差异存在于N末端和C末端的选择性剪接外显子中。在小鼠胚胎分期切片上对小鼠等效物OG-12进行原位杂交，在发育中的静脉窦（主动脉）、雌性生殖器、间脑、骨髓和髓脑、鼻囊、腭、眼睑和四肢中检测到高度限制性转录本。SHOT定位于人类染色体3q25-q26和OG-12，位于3号染色体的一个同区。根据其小鼠胚胎发育过程中同源基因的定位和表达模式，SHOT可能是Cornelia de Lange综合征的候选基因。
Deletion of the SHOX region on the human sex chromosomes has been shown to result in idiopathic short stature and proposed to play a role in the short stature associated with Turner syndrome. We have identified a human paired-related homeobox gene, SHOT, by virtue of its homology to the human SHOX and mouse OG-12 genes. Two different isoforms were isolated, SHOTa and SHOTb, which have identical homeodomains and share a C-terminal 14-amino acid residue motif characteristic for craniofacially expressed homeodomain proteins. Differences between SHOTa and b reside within the N termini and an alternatively spliced exon in the C termini. In situ hybridization of the mouse equivalent, OG-12, on sections from staged mouse embryos detected highly restricted transcripts in the developing sinus venosus (aorta), female genitalia, diencephalon, mes- and myelencephalon, nasal capsula, palate, eyelid, and in the limbs. SHOT was mapped to human chromosome 3q25-q26 and OG-12 within a syntenic region on chromosome 3. Based on the localization and expression pattern of its mouse homologue during embryonic development, SHOT represents a candidate for the Cornelia de Lange syndrome.