The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome
The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome
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人类无生殖细胞 (HGCL)：阿尔斯特罗姆综合征的候选基因
DOI：
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发表时间：
2001
期刊：
影响因子：
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通讯作者：
G. Rechavi
中科院分区：
文献类型：
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作者：
Einav Nili;G. Cojocaru;G. Collin;P. Nishina;F. Brok‐Simoni;N. Amariglio;A. Simon;G. Rechavi
Alström 综合征 (ALMS1, MIM 203800) 是一种罕见的常染色体隐性遗传疾病，其特征为视网膜色素变性、耳聋、肥胖、高脂血症和非胰岛素依赖型糖尿病 (NIDDM)。在某些情况下，还观察到黑棘皮症、心肌病、肝功能障碍、进行性慢性肾病和男性性腺功能减退症。连锁分析研究将阿尔斯特罗姆综合征映射到染色体 2pl3。该区域的几个基因，包括 TGFA 和 DCTN1，已被分析并排除为该疾病的候选基因。在这里，我们报告了 HGCL 的克隆和表征，HGCL 是果蝇和小鼠生殖细胞无基因的人类同源物，它映射到阿尔斯特伦综合征的染色体区域。已鉴定出的三种高度保守的凝胶蛋白含有 BTB/POZ 结构域，存在于多种调节蛋白中，其中许多具有 DNA 相关功能，例如抑制转录。小鼠凝胶被认为可以抑制 E2F-DP 复合物的转录活性并负向调节细胞周期。基于 HGCL 的染色体图谱及其在各种人体组织中的表达模式，我们建议 HGCL 作为阿尔斯特罗姆综合征的候选基因。转载地址：Dr. Amos J. Simon 分子血液肿瘤实验室血液学研究所 The Chaim Sheba Medical Center Tel-Hashomer 52621, Israel 电子邮件：wsamos@dapsasl .weizmann.ac 。我我
Alström syndrome (ALMS1, MIM 203800) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, deafness, obesity, hyperlipidemia and non-insulin dependent diabetes mellitus (NIDDM). In some cases, acanthosis nigricans, cardiomyopathy, hepatic dysfunction, progressive chronic nephropathy and male hypogonadism are also observed. Linkage analysis studies mapped Alström syndrome to chromosome 2pl3. Several genes in this region, including TGFA and DCTN1, have been analyzed and excluded as candidate genes for this disease. Here we report the cloning and characterization of HGCL, the human homologue of the germ cell-less gene of Drosophila and mouse, which maps to the chromosomal region identified for Alström syndrome. Three highly conserved gel proteins which have been identified contain a BTB/POZ domain, present in a variety of regulatory proteins, many of which have DNA-related functions, such as repression of transcription. Mouse gel has been suggested to repress the transcriptional activity of the E2F-DP complex and to negatively regulate the cell cycle. Based on the chromosomal mapping of HGCL, and its pattern of expression in various human tissues, we propose HGCL to be a candidate gene for Alström syndrome. Reprint address: Dr. Amos J. Simon Molecular Hemato-Oncology Laboratory Institute of Hematology The Chaim Sheba Medical Center Tel-Hashomer 52621, Israel e-mail: wsamos@dapsasl .weizmann.ac . i l
迟发性扩张型心肌病是一种独特的性腺功能减退和代谢异常家族综合征。
影响因子：
4.8
作者：
Warren,SE;Schnitt,SJ;Bauman,AJ;Gianelly,RE;Landsberg,L;Baim,DS
通讯作者：
Baim,DS
人类 DCTN1：作为阿尔斯特罗姆综合征候选者的基因组结构和评估。
影响因子：
4.4
作者：
Collin,GB;Nishina,PM;Marshall,JD;Naggert,JK
通讯作者：
Naggert,JK