Characterisation and mapping of the human SOX14 gene
Characterisation and mapping of the human SOX14 gene
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DOI：
10.1159/000015149
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发表时间：
1998-01-01
期刊：
影响因子：
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通讯作者：
Stevanovic, M
中科院分区：
文献类型：
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作者：
Arsic, N;Rajic, T;Stevanovic, M
SOX 基因包含与哺乳动物性别决定基因 SRY 相关的基因家族，该基因位于编码负责序列特异性 DNA 结合活性的 HMG-box 结构域的区域。 SOX 基因编码与发育过程中细胞命运的决定和不同发育过程的控制有关的推定转录调节因子。我们克隆并表征了 SOX14，它是人类 SOX 基因家族的一个新成员。根据 HMG-box 序列，人类 SOX14 是 B 亚家族的成员。 SOX 14 在人类胎儿大脑、脊髓和胸腺中表达，与 B 亚家族的其他成员一样，它可能在调节神经系统发育中发挥作用。虽然 B 亚家族的其他成员在 HMG 盒外表现出相似性，但人类 SOX14 基因的 HMG 盒两侧的区域是独特的。SOX14 已被定位到人类染色体 3q22 --> q23，靠近标记 D3S1549。该位置将 SOX 14 置于与影响颅面发育的两种不同综合征相关的染色体区间内：眼睑裂-下垂-内收内收综合征和莫比乌斯综合征。
SOX genes comprise a family of genes that are related to the mammalian sex determining gene SRY in the region that encodes the HMG-box domain responsible for the sequence-specific DNA-binding activity. SOX genes encode putative transcriptional regulators implicated in the decision of cell fates during development and the control of diverse developmental processes.We have cloned and characterised SOX14, a novel member of the human SOX gene family. Based on the HMG-box sequence, human SOX14 is a member of the B subfamily. SOX 14 is expressed in human foetal brain, spinal cord and thymus, and like other members of the B subfamily, it might have a role in regulation of nervous system development. While other members of the B subfamily show similarity outside the HMG-box, the regions flanking the HMG box of the human SOX14 gene are unique.SOX14 has been mapped to human chromosome 3q22 --> q23, close to the marker D3S1549. This location places SOX 14 within a chromosome interval associated with two distinct syndromes that affect craniofacial development: Blepharophimosis-ptosis-epicantus inversus syndrome and Mobius syndrome.