Survey and characterization of nonfunctional alleles of FUT2 in a database.
Survey and characterization of nonfunctional alleles of FUT2 in a database.
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数据库中FUT2非功能等位基因的调查和表征。
DOI：
10.1038/s41598-021-82895-w
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发表时间：
2021-02-04
影响因子：
4.6
通讯作者：
Koda Y
中科院分区：
文献类型：
--
作者：
Soejima M;Koda Y
人唾液中ABO抗原的表达受FUT2基因调控，该基因编码分泌型α（1，2）岩藻糖基转移酶。分泌型在唾液中表达ABO底物，而非分泌型则不表达。分泌状态是一个关注的对象，特别是对各种传染病的易感性。大量的单核苷酸多态性（SNPs）和拷贝数变异（CNVs）已被报道，它们在不同人群中显示出独特的分布。在这项研究中，我们选择了18个未表征的FUT2等位基因在Erythrogene数据库中列出，并获得了具有这些等位基因的基因组DNA。我们实验证实了单倍型，但18个等位基因中有10个与数据库中的不一致，这可能是由于它们的频率低。然后，我们通过H抗原表达的流式细胞术检测了编码的α（1，2）岩藻糖基转移酶对13个等位基因的活性。还通过软件估计每个非同义SNP对酶的影响。我们最终确定了两个非分泌型等位基因（se610和se357，856，863）和一个弱分泌型等位基因（se262，357），而计算机分析预测，许多等位基因损害功能。目前的结果表明，正确的单倍型和功能分析是可取的FUT2基因的分析。
The expression of ABO antigens in human saliva is regulated by the FUT2 gene, which encodes a secretor type α(1,2)fucosyltransferase. Secretors express ABO substrates in saliva and non-secretors do not. Secretor status is an object of concern, especially for susceptibility to various infectious diseases. A multitude of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) have been reported, and they show unique distributions among different populations. In this study, we selected 18 uncharacterized FUT2 alleles listed in the Erythrogene database and obtained genomic DNA having these alleles. We experimentally confirmed the haplotypes, but 10 of 18 alleles disagreed with those in the database, which may be attributed to their low frequency. We then examined the activity of the encoded α(1,2)fucosyltransferase for 13 alleles by flow cytometry of H antigen expression. The impact of each nonsynonymous SNP on the enzyme was also estimated by software. We finally identified two non-secretor alleles (se610and se357,856,863) and one weak secretor allele (se262,357), while in silico analysis predicted that many alleles impair the function. The present results suggest that correct haplotyping and functional assays are desirable for analysis of the FUT2 gene.
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影响因子：
64.8
作者：
Sudmant PH;Rausch T;Gardner EJ;Handsaker RE;Abyzov A;Huddleston J;Zhang Y;Ye K;Jun G;Fritz MH;Konkel MK;Malhotra A;Stütz AM;Shi X;Casale FP;Chen J;Hormozdiari F;Dayama G;Chen K;Malig M;Chaisson MJP;Walter K;Meiers S;Kashin S;Garrison E;Auton A;Lam HYK;Mu XJ;Alkan C;Antaki D;Bae T;Cerveira E;Chines P;Chong Z;Clarke L;Dal E;Ding L;Emery S;Fan X;Gujral M;Kahveci F;Kidd JM;Kong Y;Lameijer EW;McCarthy S;Flicek P;Gibbs RA;Marth G;Mason CE;Menelaou A;Muzny DM;Nelson BJ;Noor A;Parrish NF;Pendleton M;Quitadamo A;Raeder B;Schadt EE;Romanovitch M;Schlattl A;Sebra R;Shabalin AA;Untergasser A;Walker JA;Wang M;Yu F;Zhang C;Zhang J;Zheng-Bradley X;Zhou W;Zichner T;Sebat J;Batzer MA;McCarroll SA;1000 Genomes Project Consortium;Mills RE;Gerstein MB;Bashir A;Stegle O;Devine SE;Lee C;Eichler EE;Korbel JO
通讯作者：
Korbel JO
影响因子：
1.9
作者：
Pang, H;Koda, Y;Kimura, H
通讯作者：
Kimura, H
影响因子：
3
作者：
Silva, Lara M.;Carvalho, Ana S.;David, Leonor
通讯作者：
David, Leonor
预测蛋白质突变的功能影响：在癌症基因组学中的应用。
影响因子：
14.9
作者：
Reva B;Antipin Y;Sander C
通讯作者：
Sander C
影响因子：
5.3
作者：
Koda, Y;Ishida, T;Kimura, H
通讯作者：
Kimura, H