Wan M, Cravatt B F, Ring H Z, Zhang X, Francke U
Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA.
Genomics. 1998 Dec 15;54(3):408-14. doi: 10.1006/geno.1998.5597.
Fatty-acid amide hydrolase (FAAH) is a membrane-bound enzyme that degrades neuromodulatory fatty acid amides, such as oleamide and anandamide, and is expressed in the mammalian central nervous system. To evaluate FAAH genes as candidates for neurogenetic diseases in humans and mice, we have mapped the loci in both species and have determined their intron-exon structures. The human FAAH gene was mapped to region 1p34-p35, closely linked to D1S197 and D1S443, by using PCR analysis of somatic cell hybrid (SCH) and radiation hybrid mapping panels. Analysis of an SCH mapping panel and a mouse interspecific backcross panel has localized the Faah gene to the conserved syntenic region on mouse chromosome 4, close to the neurological mutation clasper. Faah gene rearrangements were excluded by Southern blot analysis of clasper DNA. No sequence abnormality was detected in PCR products containing the 15 exons and splice junctions of the mouse Faah gene. FAAH protein levels were normal in clasper mouse tissues as determined by enzyme activity assays and Western blotting.
脂肪酸酰胺水解酶（FAAH）是一种膜结合酶，可降解神经调节性脂肪酸酰胺，如油酰胺和花生四烯乙醇胺，并在哺乳动物中枢神经系统中表达。为了评估FAAH基因作为人类和小鼠神经遗传性疾病候选基因的可能性，我们已在这两个物种中定位了该基因座，并确定了它们的内含子-外显子结构。通过对体细胞杂种（SCH）和辐射杂种定位板进行PCR分析，将人类FAAH基因定位到1p34 - p35区域，该区域与D1S197和D1S443紧密连锁。对一个SCH定位板和一个小鼠种间回交板的分析已将Faah基因定位到小鼠4号染色体上的保守同线区域，靠近神经学突变clasper。通过对clasper DNA进行Southern印迹分析，排除了Faah基因重排。在包含小鼠Faah基因15个外显子和剪接位点的PCR产物中未检测到序列异常。通过酶活性测定和蛋白质免疫印迹法确定，clasper小鼠组织中的FAAH蛋白水平正常。
