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位于13号染色体上的人类心脏脂肪酸结合蛋白假基因的鉴定。

Identification of a human heart FABP pseudogene located on chromosome 13.

作者信息

Prinsen C F, Weghuis D O, Kessel A G, Veerkamp J H

机构信息

Department of Biochemistry, Medical Faculty, University of Nijmegen, The Netherlands.

出版信息

Gene. 1997 Jul 9;193(2):245-51. doi: 10.1016/s0378-1119(97)00129-7.

Abstract

The fatty acid-binding proteins (FABPs) constitute a conserved group of cytosolic low molecular mass proteins, which consists of several types: liver, heart, myelin, epidermal, adipocyte, brain, intestinal and ileal type. The FABP gene structure is well conserved during evolution and exhibits a four-exon/three-intron structure. In the past, multiple hybridizing fragments were detected upon Southern blot analysis using heart FABP (H-FABP) cDNA as a probe. The origin of these fragments was not clear. We screened a human genomic library and isolated an intronless gene (FABP3-ps) with 85% similarity to the human H-FABP cDNA and high similarity (76 and 79%) to the H-FABP cDNAs of mouse and bovine, respectively. By means of fluorescence in situ hybridization this processed pseudogene could be assigned chromosome 13q13-q14, whereas the gene for human H-FABP (FABP3) resides on chromosome 1p32-p33. No expression of the processed pseudogene could be detected in skeletal muscle or fetal brain.

摘要

脂肪酸结合蛋白(FABPs)是一组保守的胞质低分子量蛋白,包括几种类型:肝脏型、心脏型、髓磷脂型、表皮型、脂肪细胞型、脑型、肠型和回肠型。FABP基因结构在进化过程中高度保守,呈现四外显子/三内含子结构。过去,使用心脏脂肪酸结合蛋白(H-FABP)cDNA作为探针进行Southern印迹分析时,检测到多个杂交片段。这些片段的来源尚不清楚。我们筛选了一个人类基因组文库,分离出一个无内含子基因(FABP3-ps),它与人类H-FABP cDNA的相似度为85%,与小鼠和牛的H-FABP cDNA的相似度分别为76%和79%。通过荧光原位杂交,这个加工假基因被定位到13q13-q14染色体上,而人类H-FABP基因(FABP3)位于1p32-p33染色体上。在骨骼肌或胎儿脑中未检测到加工假基因的表达。

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