Molecular basis for erythrocyte Le(a+b+) and salivary ABH partial-secretor phenotypes: expression of a FUT2 secretor allele with an A?T mutation at nucleotide 385 correlates with reduced?(1,2) fucosyltransferase activity

Henry, Stephen; Mollicone, Rosella; Fernandez, Pilar; Samuelsson, Bo E.; Oriol, Rafaël; Larson, Göran

doi:10.1007/bf01053194

Cited by 69 publications

(47 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The missense A385 → T mutation, described in Taiwan [19], Indonesia [20], Polynesia [21], and Japan [2223]is responsible for the Le(a+b+) red cell phenotype and a weak expression of the ABH antigens in saliva [21]. The nonsense G428 → A mutation described in North America [4]gives the salivary ABH nonsecretor phenotype in Caucasians, and the nonsense C571 → T mutation described in Polynesia [24], Japan [25]and Taiwan [26]gives a similar salivary lack of ABH secretion among Asians.…”

Section: Resultsmentioning

confidence: 99%

“…The G428 → A which is prevalent in Caucasians (about 20% of the population are nonsecretors), and the partially inactivating A385 → T mutation [21]which is prevalent among Asians and Polynesians (about 20% are weak secretors). In addition, three less-frequent point mutations C571 → T [24], C628 → T [25]and G849 → A [26], and a Sec 1- FUT2 fusion gene preventing the FUT2 gene from being amplified by PCR, have been described.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Fernández-Mateos¹,

Cailleau²,

Henry³

et al. 1998

Vox Sanguinis

Self Cite

View full text Add to dashboard Cite

Objective: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H-deficient phenotypes. Methods: Sequence and expression of FUT1 and FUT2 genes from H-deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defects of H, secretor and Lewis systems. Results: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725 → G changing Leu242 → Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349 → T which induces a change of His117 → Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428 → A. Conclusion: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H-deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Fernández-Mateos¹,

Cailleau²,

Henry³

et al. 1998

Vox Sanguinis

Self Cite

View full text Add to dashboard Cite

show abstract

“…As illustrated in Fig. 6, the individual was genotyped as Secretor ϩ , thus being heterozygous (ϩ/Ϫ) mutated at nucleotide 428 (10) and homozygous (ϩ/ϩ) at positions 385 and 571 of the FUT2 gene (4,5). This individual was characterized at five loci of the FUT3 gene and typed as Lewis positive with two wild-type alleles.…”

Section: Sequence Analysis Of the Polymerase Gene (Orf1)mentioning

confidence: 99%

Evolution of Human Calicivirus RNA In Vivo:Accumulation of Mutations in the Protruding P2 Domain of the CapsidLeads to Structural Changes and Possibly a NewPhenotype

Nilsson

Hedlund²,

Thorhagen³

et al. 2003

J Virol

184

158

View full text Add to dashboard Cite

In the present study we report on evolution of calicivirus RNA from a patient with chronic diarrhea (i.e., lasting >2 years) and viral shedding. Partial sequencing of open reading frame 1 (ORF1) from 12 consecutive isolates revealed shedding of a genogroup II virus with relatively few nucleotide changes during a 1-year period. The entire capsid gene (ORF2) was also sequenced from the same isolates and found to contain 1,647 nucleotides encoding a protein of 548 amino acids with similarities to the Arg320 and Mx strains. Comparative sequence analysis of ORF2 revealed 32 amino acid changes during the year. It was notable that the vast majority of the cumulative amino acid changes (8 of 11) appeared within residues 279 to 405 located within the hypervariable domain (P2) of the capsid protein and hence were subject to immune pressure. An interesting and novel observation was that the accumulated amino acid changes in the P2 domain resulted in predicted structural changes, including disappearance of a helix structure, and thus a possible emergence of a new phenotype. FUT2 gene polymorphism characterization revealed that the patient is heterozygous at nucleotide 428 and thus Secretor ؉ , a finding in accordance with the hypothesis of FUT2 gene polymorphism and calicivirus susceptibility. To our knowledge, this is the first report of RNA evolution of calicivirus in a single individual, and our data suggest an immunity-driven mechanism for viral evolution. We also report on chronic virus excretion, immunoglobulin treatment, and modification of clinical symptoms; our observations from these studies, together with the FUT2 gene characterization, may lead to a better understanding of calicivirus pathogenesis.Acute diarrheal diseases are common in humans and are associated with significant morbidity worldwide and substantial mortality in developing countries. In recent years, caliciviruses have emerged as an important cause of gastroenteritis in all age groups and are now recognized as the main cause of gastroenteritis in nursing homes and hospitals (3,8,12,14,15,27).Caliciviruses are classified into four genera: norovirus, sapovirus, vesivirus, and logovirus. Human caliciviruses are found within the norovirus and sapovirus genera, which contain a wide range of genetically distinct strains. The sequence heterogeneity of these strains may be a result of the high mutation rate caused by the lack of proofreading of the polymerase. However, the sequence variation has also raised the possibility that calicivirus RNA undergoes constant genetic drift through immune-response-driven mechanisms, leading to the emergence of new strains. However, at present there is no information on human calicivirus mutation rates over time, nor has the importance of immune-response-driven mutations been reported.The clinical features of a calicivirus infection includes an incubation period of 12 to 48 h characterized by acute onset of nausea, vomiting, abdominal cramps and diarrhea that generally lasts for about 48 h. Recent studies have shown, howe...

show abstract

“…The Le (a+b+) and Le (a+b–) phenotypes result from homozygosity for the weak Se allele ( Se w ) [6, 7, 8, 9, 10]and the null se allele in double dose, respectively.…”

Section: Introductionmentioning

confidence: 99%

A Newly Identified Nonsecretor Allele of the Human Histo–Blood Group α(1,2)Fucosyltransferase Gene (FUT2)

Yu¹,

Lee²,

Chu³

et al. 1999

Vox Sanguinis

View full text Add to dashboard Cite

Background and Objectives: The human Secretor α(1,2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Studies were carried out on the Lewis (a+b–) nonsecretors of different groups indigenous to Taiwan to demonstrate their se genotypes. Methods: The Lewis phenotype of the blood samples was determined by a microplate method. The se genotypes of the individuals with the Lewis (a+b–) phenotype were analyzed by a polymerase chain reaction restriction fragment length polymorphism (PCR–RFLP) method designed for the se alleles reported previously. PCR and cloning techniques were used to determine the coding sequence of the novel se gene. Results: A new se allele, se⁶⁸⁵, with a three–nucleotide deletion of GTGGT to GT in the coding region of nucleotides 685 through 689 was identified in a Le (a+b–) nonsecretor from the Ami tribe indigenous to Taiwan. The deletion predicts the loss of the amino acid Val²³⁰ in the corresponding secretor enzyme's C–terminal segment. The distribution of the se⁶⁸⁵ allele in the Ami tribe was further verified by PCR–RFLP analysis. Conclusion: The Se gene exhibits heterogeneity with some Se alleles being common but others displaying a unique distribution in different ethnic populations. The newly identified se⁶⁸⁵ allele seems to exist only in the Ami tribe indigenous to Taiwan.

show abstract

Molecular basis for erythrocyte Le(a+b+) and salivary ABH partial-secretor phenotypes: expression of a FUT2 secretor allele with an A?T mutation at nucleotide 385 correlates with reduced?(1,2) fucosyltransferase activity

Cited by 69 publications

References 32 publications

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Evolution of Human Calicivirus RNA In Vivo:Accumulation of Mutations in the Protruding P2 Domain of the CapsidLeads to Structural Changes and Possibly a NewPhenotype

A Newly Identified Nonsecretor Allele of the Human Histo–Blood Group α(1,2)Fucosyltransferase Gene (FUT2)

Contact Info

Product

Resources

About

Molecular basis for erythrocyte Le(a+b+) and salivary ABH partial-secretor phenotypes: expression of a FUT2 secretor allele with an A?T mutation at nucleotide 385 correlates with reduced?(1,2) fucosyltransferase activity

Cited by 69 publications

References 32 publications

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups

Evolution of Human Calicivirus RNA In Vivo:Accumulation of Mutations in the Protruding P2 Domain of the CapsidLeads to Structural Changes and Possibly a NewPhenotype

A Newly Identified Nonsecretor Allele of the Human Histo&ndash;Blood Group &alpha;(1,2)Fucosyltransferase Gene (FUT2)

Contact Info

Product

Resources

About

A Newly Identified Nonsecretor Allele of the Human Histo–Blood Group α(1,2)Fucosyltransferase Gene (FUT2)