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Next-generation sequencing of exonic and regulatory regions of ten genes involved on melanin biosynthesis in a brazilian population sample

Grant number: 13/15447-0
Support type:Regular Research Grants
Duration: May 01, 2014 - April 30, 2016
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Celso Teixeira Mendes Junior
Grantee:Celso Teixeira Mendes Junior
Home Institution: Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto (FFCLRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
Assoc. researchers:Aguinaldo Luiz Simões ; Eduardo Antônio Donadi ; Erick da Cruz Castelli

Abstract

Human pigmentation is majorly determined by the presence of melanin, with more than 120 genes involved in its production, distribution and secretion by melanocytes. SNPs placed at exonic regions of such genes may result in aminoacid exchanges at the encoded protein, altering its conformation and functional properties, while SNPs placed at regulatory regions of the same genes may lead to changes on expression levels. Regarding the transcriptional regulation, the presence of transcription factors and their binding capacity on the DNA molecule may influence the expression level of a given gene. Concerning the post-transcriptional regulation, microRNAs play a determinant role by recognizing target sequences on the 3' untranslated region (UTR) of the mRNA and modulating its expression. In all these situations, DNA variation may result in phenotypical alterations (eye, skin and hair color, and presence of freckles). The hypothesis of the present study is that alleles and haplotypes from the regulatory and exonic regions of ten of the main pigmentation genes present correlation with the intensity of eye, skin and hair pigmentation in Brazilian urban populations. This correlation would be due to protein modifications as well as to a differential affinity of different promoter and 3'UTR alleles and haplotypes with transcription factors and microRNAs, respectively. The main goal of this is study consists in analyzing the genetic diversity of exonic, promoter and 3'UTR regions of the MC1R, ASIP, MITF, TYR, DCT, TYRP1, SLC24A5, SLC45A2, OCA2 and HERC2 genes, by next-generation sequencing, in a population sample of 192 individuals from the São Paulo State. The identification of actually functional genetic polymorphisms associated with the human pigmentation and the comprehension of the molecular mechanisms responsible for the determination of specific phenotypes is of utmost scientific importance for application in different fields. (AU)

Scientific publications (5)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
DO VALLE-SILVA, GUILHERME; NUNES DE SOUZA, FLAVIA DJENANE; MARCORIN, LETICIA; EBURNEO PEREIRA, ALISON LUIS; TELLES CARRATTO, THASSIA MAYRA; DEBORTOLI, GUILHERME; GUIMARAES DE OLIVEIRA, MARIA LUIZA; DE AGUIAR FRACASSO, NADIA CAROLINA; DE ANDRADE, EDILENE SANTOS; DONADI, EDUARDO ANTONIO; NORTON, HEATHER L.; PARRA, ESTEBAN J.; SIMOES, AGUINALDO LUIZ; CASTELLI, ERICK C.; MENDES-JUNIOR, CELSO TEIXEIRA. Applicability of the SNPforID 52-plex panel for human identification and ancestry evaluation in a Brazilian population sample by next-generation sequencing. FORENSIC SCIENCE INTERNATIONAL-GENETICS, v. 40, p. 201-209, MAY 2019. Web of Science Citations: 0.
GUIMARAES DE OLIVEIRA, MARIA LUIZA; VEIGA-CASTELLIA, LUCIANA CARICATI; MARCORIN, LETICIA; DEBORTOLI, GUILHERME; EBURNEO PEREIRA, ALISON LUIS; DE AGUIAR FRACASSO, NADIA CAROLINA; SILVA, GUILHERME DO VALLE; SOUZA, ANDREIA S.; MASSARO, JULIANA DOBLAS; SIMOES, AGUINALDO LUIZ; SABBAGH, AUDREY; DONADI, EDUARDO ANTONIO; CASTELLI, ERICK C.; MENDES-JUNIOR, CELSO TEIXEIRA. Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies. HUMAN IMMUNOLOGY, v. 79, n. 11, p. 790-799, NOV 2018. Web of Science Citations: 0.
LEONARDO ARDUINO MARANO; LETÍCIA MARCORIN; ERICK DA CRUZ CASTELLI; CELSO TEIXEIRA MENDES-JUNIOR. Evaluation of MC1R high-throughput nucleotide sequencing data generated by the 1000 Genomes Project. GENETICS AND MOLECULAR BIOLOGY, v. 40, n. 2, p. 530-539, Jun. 2017. Web of Science Citations: 1.
DE AGUIAR FRACASSO, NADIA CAROLINA; DE ANDRADE, EDILENE SANTOS; VIEIRA WIEZEL, CLAUDIA EMILIA; FRANCO ANDRADE, CLAUDIA CAIXETA; ZANAO, LIDIA RENATA; DA SILVA, MATEUS SPINELLI; MARANO, LEONARDO ARDUINO; DONADI, EDUARDO ANTONIO; CASTELLI, ERICK C.; SIMOES, AGUINALDO LUIZ; MENDES-JUNIOR, CELSO TEIXEIRA. Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. LEGAL MEDICINE, v. 25, p. 43-51, MAR 2017. Web of Science Citations: 2.
ANDRADE, EDILENE S.; FRACASSO, NADIA C. A.; STRAZZA JUNIOR, PAULO S.; SIMOES, AGUINALDO L.; MENDES-JUNIOR, CELSO T. Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population. LEGAL MEDICINE, v. 24, p. 78-83, JAN 2017. Web of Science Citations: 1.

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