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Investigation of phylogenetic, protein network and cis regulatory elements of TPRN: A key gene causing deafness, autosomal recessive 79

عنوان مقاله: Investigation of phylogenetic, protein network and cis regulatory elements of TPRN: A key gene causing deafness, autosomal recessive 79
شناسه ملی مقاله: IBIS07_056
منتشر شده در هفتمین همایش بیوانفورماتیک ایران در سال 1396
مشخصات نویسندگان مقاله:

Taraneh Tatarcheh - Pharmaceutical Sciences Research Center, Pharmaceutical Sciences Branch, Islamic Azad University, Tehran, Iran
Samira Behroozi - Pharmaceutical Sciences Research Center, Pharmaceutical Sciences Branch, Islamic Azad University, Tehran, Iran
Farshid Parvini - Department of Cell and Molecular Biology, Faculty of Science, Semnan University, Semnan, Iran
Hossein Fahimi - Department of Molecular and Cellular Sciences, Faculty of Advanced Sciences and Technology, Pharmaceutical Sciences Branch, Islamic Azad University, Tehran, Iran

خلاصه مقاله:
Hearing loss (HL) is the most prevalent sensorineural defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. HL is classified to syndromic and non-syndromic. Autosomal recessive non-syndromic HL contributes nearly 80% of total [1]. TPRN encodes a sensory epithelial protein. Mutations at this gene have been associated with autosomal recessive deafness 79 [2]. In this research, to explore evolutionary relationship of TPRN gene in human in comparison to other organisms, ClustalX, GENEDOC and Tree view softwares and to study of gene network and various cis elements of the promoter of this gene, GeneMANIA and Gene2promoter sorfwares were used, respectively. Regarding to phylogenetic tree acheived by nucleotide sequence analysis of TPRN, Homo sapiens has the highest similarity to Gorilla gorilla gorilla and Pan Paniscus and lowest similarity to Cebus capusinus. In addition, investigation of TPRN gene network showed its physical interaction with CLIC4, CLIC5, DNAAF5, PPP1CA, PPP1CC, and PPP1R18 proteins. Promoter analysis of TPRN gene clearly showed the presence of 3 matrix families ETSF (related to protein transporters and effective in T cell activation), RXRF (involved in the regulation of gene expression) and SORY (affects developmental processes of organism) (P<0.01) [3, 4]. Totally, obtained results showed the complexity and functional importance of highly conserved TPRN gene

کلمات کلیدی:
TPRN gene, Hearing loss, Phylogenetic, Gene network, Cis elements

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/712457/