CDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
CDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
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DOI：
10.1006/geno.2000.6196
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发表时间：
2000-06-01
期刊：
影响因子：
4.4
通讯作者：
Weber, BHF
中科院分区：
文献类型：
--
作者：
Marquardt, A;Stöhr, H;Weber, BHF
在脂肪酸的特定位置插入双键是通过不同的去饱和酶的作用来实现的。在这里，我们报道了人类脂肪酸去饱和酶（FADS）基因家族的三个成员的克隆和特征。在11q12-q13.1确定的1.4 mb区域内通过直接cDNA选择鉴定为cDNA片段，通过EST序列组装获得全长脂肪酸去饱和酶-1 （FADS1）和脂肪酸去饱和酶-2 （FADS2）转录本。第三个成员，脂肪酸去饱和酶-3 (FADS3)，分别与FADS1和FADS2核苷酸序列相同，分别为62%和70%。这三个基因聚集在92 kb的基因组DNA中，位于2 kb的端粒到FEN1和50 kb的着丝粒到VMD2，它们可能是由基因复制进化而来的，因为它们具有非常相似的外显子/内含子组织。蛋白数据库检索发现FADS1、FADS2和FADS3是由n端细胞色素b5样结构域和c端多跨膜去饱和酶部分组成的融合产物。(C) 2000年学术出版社。
The insertion of double bonds into specific positions of fatty acids is achieved by the action of distinct desaturase enzymes. Here we report the cloning and characterization of three members of the fatty acid desaturase (FADS) gene family in humans. Initially identified as cDNA fragments by direct cDNA selection within a defined 1.4-Mb region in 11q12-q13.1, full-length fatty acid desaturase-1 (FADS1) and fatty acid desaturase-2 (FADS2) transcripts were obtained by EST sequence assembly. A third member, fatty acid desaturase-3 (FADS3), was identified in silico revealing 62 and 70% nucleotide sequence identity with FADS1 and FADS2, respectively. The three genes are clustered within 92 kb of genomic DNA located 2 kb telomeric to FEN1 and 50 kb centromeric to VMD2 and are likely to have arisen evolutionarily from gene duplication as they share a remarkably similar exon/ intron organization. Protein database searches identified FADS1, FADS2, and FADS3 as fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion. (C) 2000 Academic Press.