Molecular genetics of alpha-L-fucosyltransferase genes (H, Se, Le, FUT4, FUT5 and FUT6)

• Published in: Transfusion clinique et biologique : journal de la Société française de transfusion sanguine Vol. 1; no. 2; p. 91
• Main Authors: Mollicone, R, Candelier, J J, Reguigne, I, Couillin, P, Fletcher, A, Oriol, R
• Format: Journal Article
• Language: English
• Published: France 1994
• Subjects: Fucosyltransferases - genetics; Galactoside 2-alpha-L-fucosyltransferase; Gene Expression Regulation, Enzymologic; Genetic Linkage; Humans; Pedigree; Polymorphism, Genetic
• ISSN: 1246-7820
• 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.