Two Missense Mutations of H Type α(1,2)Fucosyltransferase Gene (FUT1) Responsible for Para-Bombay Phenotype

Wang, Baojie; Koda, Yoshiro; Soejim, Mikiko; Kimurâ, Hiroshi

doi:10.1159/000461954

Cited by 19 publications

(20 citation statements)

References 12 publications

(23 reference statements)

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“…Although the FUT2 locus has null alleles with high frequencies (about 0.5) in most populations of the world and has prevalent null alleles (se 428 and se 385 ; Kelly et al 1995;Koda et al 1996Koda et al , 2001bLiu et al 1998), the mutational character in the null allele of Dani populations is similar to that observed in FUT1, in which null alleles of the FUT1 locus (h alleles, the Bombay or para-Bombay phenotype in the ABO histo-blood group system) are rare and generated by different mutational events without prevalent null alleles (Kelly et al 1994;Koda et al 1997;Wagner and Flegel 1997;Wang et al 1997;FernandezMateos et al 1998;Wagner et al 2001).…”

Section: Discussionmentioning

confidence: 98%

DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa

et al. 2003

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We have investigated the allelic polymorphism of the human ABO-secretor locus ( FUT2) in 90 unrelated Papuan-speaking New Guineans (Dani group), 101 admixed New Guineans from Irian Jaya, Indonesia, and 32 New Guineans from Papua New Guinea by DNA sequencing analysis. Whereas the total frequency of various nonfunctional alleles at the FUT2 locus in the worldwide populations so far examined is around 0.5, we have found only one individual heterozygous for a nonfunctional allele in the 90 Dani group members and a frequency of nonfunctional alleles of 0.1-0.2 in the admixed New Guineans. Admixed New Guineans had the Asian-specific null allele se(385) and the characteristic nonfunctional allele se(del2) found in Polynesians. In addition, both New Guinean populations had unique functional alleles ( Se(375) and Se(400)) with high frequencies (0.11-0.37); these are absent in other populations of the world except for African and Samoan populations. The Se(375) allele had G and C at positions 1009 and 1011 of the 3' untranslated region, respectively, whereas all other FUT2 alleles found so far in the world, except for se(428), have 1009A and 1011T. The Se(375) allele found in Africans has 1009G and 1011T, or 1009A and 1011T. Corresponding positions of nonhuman primates have G and C, suggesting that the Se(375) allele is one of the ancestral alleles, reflecting the early human migration from Africa to New Guinea and the long isolation of Dani populations from neighboring populations.

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Section: Discussionmentioning

confidence: 98%

DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa

et al. 2003

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“…Elmgren et al (1997) have reported, in their transfection study of a chimeric FUT3 construct containing T202 C or C314 T, that the T202 C mutation has about 10% activity compared with a construct containing the wild type allele, and that the C314 T construct has a similar activity to the wild type allele, whereas the construct containing both T202 C and C314 T has no activity. We have also reported two missense mutations (T460 C and G1042 A) of the H type α(1,2)fucosyltransferase gene (FUT1) in a Japanese individual with the para-Bombay phenotype (Wang et al 1997). Although the h 460,1042 FUT1 construct shows no activity after transfection into COS7 cells, the chimeric construct containing T460 C or G1042 A has about 1% or 10% activity compared with the construct containing the wild type FUT1 allele.…”

Section: Discussionmentioning

confidence: 99%

Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa

Pang¹,

Liu²,

Koda³

et al. 1998

Hum Genet

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Five novel missense mutations, viz., C304 A, T370 G, G484 A, G667 A, and G808 A, in the Lewis gene (FUT3) were detected in African (Xhosa) and Caucasian individuals in South Africa. These single base substitutions may result in changes in amino acid residues from Gln102 to Lys in the 304 mutation, Ser124 to Ala in the 370 mutation, Asp162 to Asn in the 484 mutation, Gly223 to Arg in the 667 mutation, and Val270 to Met in the 808 mutation. Out of the five novel mutations identified in this investigation, four new alleles (le484,667, le484,667,808, Le304, and Le370) were determined in the Xhosa population and two new alleles (le202,314,484 and Le304) in the Caucasian population. The determination of alpha(1,3/1,4)fucosyltransferase activity, after transfection of plasmids containing the new alleles into COS7 cells, suggested that alleles le484,667 and le484,667,808 encoded an inactive enzyme, and that alleles Le304 and Le370 encoded a functional enzyme. In addition, we also examined the incidence of five common alleles, Le59, le59,508 le59,1067, le202,314, and le1067 in two populations by the polymerase chain reaction/restriction fragment length polymorphism method and compared differences in the allele frequencies of FUT3 among three ethnic groups (Orientals, Africans, and Caucasians).

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“…The molecular mechanism for the deficiency of H and Se enzymes has been analyzed in many populations (Kelly et al 1994Koda et al 1996;Yu et al 1996;Kaneko et al 1997;Wang et al 1997;Wagner and Flegel 1997;Fernandez-Mateos et al 1998;Liu et al 1998bLiu et al , 1999b. These results have demonstrated that the frequency of H enzyme-deficient alleles is very low, and that there is no prevalent null allele, whereas the frequency of Se enzyme-deficient alleles is about 50% in all populations tested, and there are prevalent population-specific null alleles.…”

Section: Introductionmentioning

confidence: 99%

An Alu -mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype

Koda

Soejima

Johnson³

et al. 2000

Human Genetics

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Recently, we have found an allelic deletion of the secretor alpha(1,2)fucosyltransferase (FUT2) gene in individuals with the classical Bombay phenotype of the ABO system. The FUT2 gene consists of two exons separated by an intron that spans approximately 7 kb. The first exon is noncoding, whereas exon 2 contains the complete coding sequence. Since the 5' breakpoint of the deletion has previously been mapped to the single intron of FUT2, we have cloned the junction region of the deletion in a Bombay individual by cassette-mediated polymerase chain reaction. In addition, the region from the 3' untranslated region of FUT2 to the 3' breakpoint sequence has been amplified from a control individual. DNA sequence analysis of this region indicates that the 5' breakpoint is within a free left Alu monomer (FLAM-C) sequence that lies 1.3 kb downstream of exon 1, and that the 3' breakpoint is within a complete Alu element (AluSx) that is positioned 1.5 kb downstream of exon 2. The size of the deletion is estimated to be about 10 kb. There is a 25-bp sequence identity between the reference DNA sequences surrounding the 5' and 3' breakpoints. This demonstrates that an Alu-mediated large gene deletion generated by unequal crossover is responsible for secretor alpha(1,2)fucosyltransferase deficiency in Indian Bombay individuals.

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Two Missense Mutations of H Type α(1,2)Fucosyltransferase Gene (FUT1) Responsible for Para-Bombay Phenotype

Cited by 19 publications

References 12 publications

DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa

DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa

Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa

An Alu -mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype

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