THE HUMAN OBESE (OB) GENE - RNA EXPRESSION PATTERN AND MAPPING ON THE PHYSICAL, CYTOGENETIC, AND GENETIC MAPS OF CHROMOSOME-7
THE HUMAN OBESE (OB) GENE - RNA EXPRESSION PATTERN AND MAPPING ON THE PHYSICAL, CYTOGENETIC, AND GENETIC MAPS OF CHROMOSOME-7
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DOI：
10.1101/gr.5.1.5
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发表时间：
1995-08-01
期刊：
影响因子：
7
通讯作者：
FRIEDMAN, JM
中科院分区：
文献类型：
--
作者：
GREEN, ED;MAFFEI, M;FRIEDMAN, JM
最近发现的小鼠肥胖基因显然编码一种分泌蛋白，可能在脂肪组织的信号通路中起作用。小鼠ob基因的突变与严重肥胖的早期发展有关。详细了解人类同源基因OB基因的RNA表达模式和精确的基因组定位，将有助于研究该基因在人类肥胖遗传中的作用。北方印迹分析显示，OB RNA在脂肪组织中以高水平存在，但在胎盘和心脏中以低得多的水平存在。OB RNA在许多其他组织中是检测不到的。小鼠和人类DNA的比较作图表明，ob基因位于小鼠6号染色体的一个区域内，该区域与人类7号染色体的一部分同源。我们将人OB基因定位在染色体7q31.3的酵母人工染色体[YAC]重叠群上，该重叠群包含43个克隆和19个序列标记位点[STS]。在19个STS中，有8个对应于微卫星类型的遗传标记，包括7个[CA]（n）重复类型的Genethon标记。由于它们与人类OB基因在物理上非常接近，这八个遗传标记代表了分析具有遗传性肥胖证据的家庭以及调查OB突变与人类肥胖之间可能关联的有价值的工具。
The recently identified mouse obese [ob] gene apparently encodes a secreted protein that may function in the signaling pathway of adipose tissue. Mutations in the mouse ob gene are associated with the early development of gross obesity. A detailed knowledge concerning the RNA expression pattern and precise genomic location of the human homolog, the OB gene, would facilitate examination of the role of this gene in the inheritance of human obesity. Northern blot analysis revealed that OB RNA is present at a high level in adipose tissue but at much lower levels in placenta and heart. OB RNA is undetectable in a wide range of other tissues. Comparative mapping of mouse and human DNA indicated that the ob gene is located within a region of mouse chromosome 6 that is homologous to a portion of human chromosome 7q. We mapped the human OB gene on a yeast artificial chromosome [YAC] contig from chromosome 7q31.3 that contains 43 clones and 19 sequence-tagged sites [STSs]. Among the 19 STSs are eight corresponding to microsatellite-type genetic markers, including seven [CA](n) repeat-type Genethon markers. Because of their close physical proximity to the human OB gene, these eight genetic markers represent valuable tools for analyzing families with evidence of hereditary obesity and for investigating the possible association between OB mutations and human obesity.