Mollicone R, Candelier J J, Reguigne I, Couillin P, Fletcher A, Oriol R
INSERM U-178, Villejuif, France.
Transfus Clin Biol. 1994;1(2):91-7. doi: 10.1016/s1246-7820(94)80002-2.
Six human alpha-L-fucosyltransferase genes have been registered in the GDB as FUT1 to FUT6 according to the chronology of their description. FUT1 and FUT2 encode the alpha(1,2)fucosyltransferases H and Se respectively. The FUT2 gene has not been cloned, but it is expected to be closely linked to FUT1 on the long arm of chromosome 19. FUT3, FUT4, FUT5 and FUT6 encode different alpha(1,3)fucosyltransferases which share between 60 and 90% homology with each other, but none with FUT1. Missense and nonsense point mutations have been found to inactivate the cognate enzymes of FUT1, FUT3 and FUT6. FUT3 and FUT6 are closely linked on the short arm of chromosome 19 and encode the Lewis and plasma enzymes respectively. The FUT5 gene has been cloned and sequenced, but its tissue expression has not been defined as yet. FUT4 has been mapped to 11q21 and encodes a monomorphic myeloid enzyme. All but FUT4 are genetically polymorphic. The deficient alleles of FUT1 and FUT6 have a very low incidence and they have been found mainly around the Indian Ocean. A myeloid enzyme is present in 5 to 10 week old human embryos and is later progressively replaced by different patterns of adult fucosyltransferase enzymes in all tissues, except in leukocytes and brain which continue to express a FUT4 like enzyme in the adult.(ABSTRACT TRUNCATED AT 250 WORDS)
根据描述的时间顺序，六个人类α-L-岩藻糖基转移酶基因已在GDB中注册为FUT1至FUT6。FUT1和FUT2分别编码α(1,2)岩藻糖基转移酶H和Se。FUT2基因尚未克隆，但预计它与19号染色体长臂上的FUT1紧密连锁。FUT3、FUT4、FUT5和FUT6编码不同的α(1,3)岩藻糖基转移酶，它们彼此之间有60%至90%的同源性，但与FUT1没有同源性。已发现错义突变和无义点突变会使FUT1、FUT3和FUT6的同源酶失活。FUT3和FUT6在19号染色体短臂上紧密连锁，分别编码Lewis酶和血浆酶。FUT5基因已被克隆和测序，但尚未确定其组织表达情况。FUT4已被定位到11q21，并编码一种单态性髓系酶。除FUT4外，所有基因均具有遗传多态性。FUT1和FUT6的缺陷等位基因发生率很低，主要在印度洋周边地区被发现。一种髓系酶存在于5至10周大的人类胚胎中，随后在所有组织中逐渐被不同模式的成人岩藻糖基转移酶取代，但白细胞和大脑除外，它们在成人中继续表达一种类似FUT4的酶。（摘要截断于250字）
