Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria

Matzhold, Eva Maria; Helmberg, Wolfgang; Drexler, Camilla; Ulrich, Silvia; Winkler, Alexandra; Lanzer, Gerhard

doi:10.1111/j.1537-2995.2009.02293.x

Cited by 24 publications

(23 citation statements)

References 60 publications

(73 reference statements)

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“…The fucosyltransferase gene family encodes enzymes that transfer fucose from α(1,2), α(1,3/4) and α(1,6) linkages to various glycans. FUT1 and FUT2 encode α(1,2)-fucosyltransferases, which transfer a terminal fucose residue from an α(1,2)-linkage to an existing galactose Type 1 or 2 precursor substance and form the H1 or H2 antigen as precursors of soluble ABH antigens, respectively (4). FUT1 is ubiquitously expressed in the human body and preferentially expressed in erythroid tissues and vascular endothelial cells.…”

Section: Introductionmentioning

confidence: 99%

“…FUT1 is ubiquitously expressed in the human body and preferentially expressed in erythroid tissues and vascular endothelial cells. FUT2 is mainly expressed in the epithelial cells of the digestive and respiratory tracts (4). FUT3 - FUT7 and FUT9 encode α(1,3)-fucosyltransferases, and their gene products transfer a fucose residue from an α(1,3)-linkage to galactose in H1 and H2 antigens to produce various Lewis antigens (5,6).…”

Section: Introductionmentioning

confidence: 99%

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Suppression of FUT1 attenuates cell proliferation in the HER2-overexpressing cancer cell line NCI-N87

et al. 2012

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Lewis Y (LeY) antigen is an oligosaccharide that is highly expressed at the cell surface in various human cancers. Increased LeY expression activates epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (HER2) and promotes cell proliferation in EGFR-overexpressing cells. However, the effect of downregulation of LeY expression on cell proliferation in HER2-overexpressing cells remains unknown. FUT1 encodes α1,2-fucosyltransferase, a key enzyme for LeY synthesis. We knocked down FUT1 by short interfering RNA (siRNA) in four HER2-overexpressing human cancer cell lines, including NCI-N87, MKN7, SKBr3 and BT474. We investigated whether downregulation of LeY and alteration in the glycosylation status of these cells affect cell proliferation and HER2 activation. Knocking down FUT1 expression markedly inhibited proliferation of NCI-N87, which highly expressed EGFR and was sensitive to EGFR deprivation. Furthermore, FUT1 siRNA downregulated the total amount of HER2 protein, phosphorylation of HER2 and EGFR, and phosphorylation of extracellular signal-regulated kinase (ERK) in this cell line. Moreover, the marked downregulation of phosphorylation of HER2 and ERK was observed following short-time EGF-stimulation. These effects were not observed in the other three cell lines. Our results suggest that knockdown of FUT1 downregulates HER2 signaling via EGFR downregulation. FUT1 may serve as a new molecular target for HER2-overexpressing human cancers with activated EGFR signaling.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Suppression of FUT1 attenuates cell proliferation in the HER2-overexpressing cancer cell line NCI-N87

et al. 2012

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“…In Lewis-positive individuals, the secretor status is deduced from the Lewis phenotype, i.e., Le(a-b+) individuals are secretors, and Le(a+b−) individuals are nonsecretors [10]. Several single-base mutations have been identified in a number of Lewis-negative individuals of various ethnic groups [6,9,11,12]. Salomaa et al [13] reported that 90% to 95% of Lewis-negative individuals could be identified by screening for the single nucleotide polymorphisms (SNPs) T59G, T1067A, T202C, and C314T, and these four SNPs appear to be common in the population at large.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of Lewis and Secretor genes are related to breast cancer and metastasis in axillary lymph nodes

et al. 2010

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ABH and Lewis antigen expression has been associated with cancer development and prognosis, tumor differentiation, and metastasis. Considering that invasive ductal breast carcinoma (IDC) presents multiple molecular alterations, the aim of the present study was to determine whether the polymorphism of ABO, Lewis, and Secretor genes, as well as ABO phenotyping, could be associated with tumor differentiation and lymph nodes metastasis. Seventy-six women with IDC and 78 healthy female blood donors were submitted to ABO phenotyping/genotyping and Lewis and Secretor genotyping. Phenotyping was performed by hemagglutination and genotyping by the polymerase chain reaction with sequence-specific primers. ABO, Lewis, and Secretor genes were classified by individual single nucleotide polymorphism at sites 59, 1067, 202, and 314 of the Lewis gene, 428 of the Secretor gene, and 261 (O1 allele), 526 (O2 and B allele), and 703 (B allele). No association was found between breast cancer and ABO antigen expression (P = 0.9323) or genotype (P = 0.9356). Lewis-negative genotype was associated with IDC (P = 0.0126) but not with anatomoclinical parameters. Nonsecretor genotype was associated with axillary lymph node metastasis (P = 0.0149). In conclusion, Lewis and Secretor genotyping could be useful to predict respectively breast cancer susceptibility and axillary lymph nodes metastasis.

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“…a), suggesting the deletion of FUT2 gene in Bombay phenotype using the primers by Matzhold et al . . A 1·8‐kb fragment (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…, while the FUT2 gene was amplified as described by Matzhold et al . . FUT2 gene was also amplified by GAP‐PCR using the primers described by Pang et al .…”

Section: Methodsmentioning

confidence: 99%

Molecular analysis of Bombay phenotype cases seen in India

Gorakshakar

Donta

Jadhav

et al. 2015

ISBT Science Series

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Background and Objectives The Bombay phenotype cases do not express the ABH antigens on red blood cells and in body secretions because of the inactivation of H (FUT1) gene and Secretor (FUT2) genes. This rare phenotype was first detected in Mumbai, India, previously known as ‘Bombay’. The presence of T725G mutation in FUT1 gene and deletion of FUT2 gene, both in homozygous condition, has been found to be the cause of Bombay phenotype in individuals originating from India. Thus, the objective of this study was micromapping of all the cases of Bombay phenotype identified at our Institute during the last 60 years and molecular analysis of FUT1 and FUT2 genes in a large number of Bombay phenotype cases. Material and Methods Bombay phenotype cases were confirmed by conventional serological techniques. FUT1 gene in 89 cases was screened for T725G alteration by PCR–RFLP. Deletions in FUT2 gene were detected by specific pairs of primers. Similarly, FUT1 and FUT2 genes were sequenced in all control samples. Results In the present series, 74·2% Bombay phenotype cases were originating from Maharashtra state. T725G was found to be the only mutation in homozygous condition in FUT1 gene in all cases of Bombay phenotype. Similarly, they were homozygous for 10‐kb deletion covering entire FUT2 gene. Conclusion All the cases of Bombay phenotype reported in this study, originating from different states of India, showed only T725G alteration in FUT1 gene and 10‐kb deletion covering entire FUT2 gene suggesting the unicentric origin of this rare phenotype in India.

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Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria

Cited by 24 publications

References 60 publications

Suppression of FUT1 attenuates cell proliferation in the HER2-overexpressing cancer cell line NCI-N87

Suppression of FUT1 attenuates cell proliferation in the HER2-overexpressing cancer cell line NCI-N87

Polymorphisms of Lewis and Secretor genes are related to breast cancer and metastasis in axillary lymph nodes

Molecular analysis of Bombay phenotype cases seen in India

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