Grewal P K, Todd L C, van der Maarel S, Frants R R, Hewitt J E
School of Biological Sciences, The University of Manchester, 3.239 Stopford Building, Oxford Rd, Manchester M13 9PT, UK.
Gene. 1998 Aug 17;216(1):13-9. doi: 10.1016/s0378-1119(98)00334-5.
The human FRG1 gene maps to human chromosome 4q35 and was identified as a candidate for facioscapulohumeral muscular dystrophy. However, FRG1 is apparently not causally associated with the disease and as yet, its function remains unclear. We have cloned homologues of FRG1 from two additional vertebrates, the mouse and the Japanese puffer fish Fugu rubripes, and investigated the genomic organization of the genes in the two species. The intron/exon structure of the genes is identical throughout the protein coding region, although the Fugu gene is five times smaller than the mouse gene. We have also identified FRG1 homologues in two nematodes; Caenorhabditis elegans and Brugia malayi. The FRG1 protein is highly conserved and contains a lipocalin sequence motif, suggesting it may function as a transport protein.
人类FRG1基因定位于人类4号染色体长臂3区5带,被确定为面肩肱型肌营养不良症的候选基因。然而,FRG1显然与该疾病没有因果关系,其功能至今仍不清楚。我们从另外两种脊椎动物——小鼠和日本河豚红鳍东方鲀中克隆了FRG1的同源物,并研究了这两个物种中该基因的基因组结构。尽管河豚基因比小鼠基因小五倍,但在整个蛋白质编码区域,这两个基因的内含子/外显子结构是相同的。我们还在两种线虫——秀丽隐杆线虫和马来布鲁线虫中鉴定出了FRG1的同源物。FRG1蛋白高度保守,包含一个脂质运载蛋白序列基序,表明它可能作为一种转运蛋白发挥作用。