Consideration of pathogenicity of nsSNVs in CDKN2A gene, as a new tumor marker for leukemia, using bioinformatics methods

Farzaneh Ghasemi, Mohammad Mehdi Heidari, Yuriy L. Orlov, Mehri Khatami, Ludmila E. Tabikhanova

Результат исследования: Публикации в книгах, отчётах, сборниках, трудах конференцийстатья в сборнике материалов конференциинаучнаярецензирование

Аннотация

CDKN2A as a tumor suppressor gene (TSG) encodes p14 and p16 that they are tumor suppressor proteins and cell cycle regulators. Downregulation of these proteins causes various cancers. Sequence deletions or promoter hypermethylation lead to downregulation of these proteins. Also, point mutations can be caused malfunction or dysfunction of proteins. The aim of this study is definition of pathogenicity of non-synonymous single nucleotide variants (nsSNVs). We study three nsSNVs including rs104894095, rs786204195 and rs104894098 from NCBI/dbSNP databank. Then, these nsSNVs are considered by bioinformatics tools such as SIFT, PolyPhen-2, I-Mutant2.0, PANTHER, P-Mut, ExPASy/ProtScale, PEPTIDE 2.0 web server and PyMOL software. Plot of hydrophobicity of rs104894098 (V126D) is significantly changed. Also, we study hydrogen bonds length and atom distances in Aspartic acid substituted Valine in position 126 by PyMOL software. These parameters are compared with wild type protein. Finally, we find that rs786204195 and rs104894095 have destructive effects. But, rs104894098 (V126D) is deleterious because polar contacts, protein stability and hydrophobicity are changed in mutant form. This theory should be proved with experimental studies.

Язык оригиналаанглийский
Название основной публикацииProceedings - 2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020
ИздательInstitute of Electrical and Electronics Engineers Inc.
Страницы85-87
Число страниц3
ISBN (электронное издание)9781728195971
DOI
СостояниеОпубликовано - июл 2020
Событие2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020 - Novosibirsk, Российская Федерация
Продолжительность: 6 июл 202010 июл 2020

Серия публикаций

НазваниеProceedings - 2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020

Конференция

Конференция2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020
СтранаРоссийская Федерация
ГородNovosibirsk
Период06.07.202010.07.2020

Предметные области OECD FOS+WOS

  • 1.02 КОМПЬЮТЕРНЫЕ И ИНФОРМАЦИОННЫЕ НАУКИ
  • 1.06 БИОЛОГИЧЕСКИЕ НАУКИ
  • 3.01 ФУНДАМЕНТАЛЬНАЯ МЕДИЦИНА
  • 5.09 ПРОЧИЕ СОЦИАЛЬНЫЕ НАУКИ

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