Co-expression study among Y chromosome genes and autosomal genes and its relation to Autism Spectrum Disorders (ASD)

• Grant number: 14/00041-1
• Support Opportunities: Scholarships in Brazil - Post-Doctorate
• Effective date (Start): April 01, 2014
• Effective date (End): March 31, 2017
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Helena Paula Brentani
• Grantee: Ana Carolina Tahira
• Host Institution: Instituto de Psiquiatria Doutor Antonio Carlos Pacheco e Silva (IPq). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Autism Spectrum Disorder (ASD) is a neurodevelopmental disease with high incidence in population, and which presents an ample spectrum of severity and impairments. Interesting, there is a distortion in male to female ratio being 4:1. Many assumptions were created focusing in sexual dimorphism to explain this ratio, however male predisposition to autistic disorder remains unexplained. Recently, studies with Drosophila melanogaster showed that there is a class of autosomal/X genes that vary in expression consistently across multiple Y introgression experiments. In human, this kind of variation is practically unexplored. Thus, in this proposal we aim to study whether changes in expression of Y chromosome genes are accompanied by other autosomal/X genes using co-expression matrix (WGCNA, implemented in R) in male samples from published microarray studies. Still, we intend to investigate whether this co-expression is different when we compare normal and autistic individuals. Together with this proposal, we want to identify human orthologs genes using the genes that showed changes in the expression due differences in Y chromosome found in D. Melanogaster, and verify if this set of human genes are associated to autism. This approach could suggest a Y chromosome effect in autism, leading to new perspectives of the roles of Y chromosome genes, and better comprehension of molecular mechanisms involved in ASD.

Scientific publications

(6)

(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)

CAMILO, CAROLINE; MASCHIETTO, MARIANA; VIEIRA, HENRIQUE C.; TAHIRA, ANA C.; GOUVEIA, GISELE R.; FEIO DOS SANTOS, ANA C.; NEGRAO, ANDRE B.; RIBEIRO, MARCELO; LARANJEIRA, RONALDO; VALLADA, HOMERO; et al. Genome-wide DNA methylation profile in the peripheral blood of cocaine and crack dependents. Revista Brasileira de Psiquiatria, v. 41, n. 6, p. 485-493, NOV-DEC 2019. (13/00659-2, 15/06281-7, 14/00041-1)

FELTRIN, ARTHUR SANT'ANNA; TAHIRA, ANA CAROLINA; SIMOES, SERGIO NERY; BRENTANI, HELENA; MARTINS, JR., DAVID CORREA. Assessment of complementarity of WGCNA and NERI results for identification of modules associated to schizophrenia spectrum disorders. PLoS One, v. 14, n. 1, JAN 15 2019. (11/04956-6, 11/50761-2, 14/00041-1, 14/10488-3, 15/01587-0)

MASCHIETTO, MARIANA; TAHIRA, ANA C.; PUGA, RENATO; LIMA, LEANDRO; MARIANI, DANIEL; PAULSEN, BRUNA DA SILVEIRA; BELMONTE-DE-ABREU, PAULO; VIEIRA, HENRIQUE; KREPISCHI, ANA C. V.; CARRARO, DIRCE M.; et al. Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia. BMC MEDICAL GENOMICS, v. 8, MAY 16 2015. (14/00041-1)

TAHIRA, ANA CAROLINA; BARBOSA, ANDRE ROCHA; FELTRIN, ARTHUR SANT'ANNA; GASTALDI, VINICIUS DAGUANO; CALEGARI DE TOLEDO, VICTOR HUGO; DE CARVALHO PEREIRA, JOSE GERALDO; GARCIA LISBOA, BIANCA CRISTINA; DE SOUZA REIS, VIVIANE NERI; FEIO DOS SANTOS, ANA CECILIA; MASCHIETTO, MARIANA; et al. Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, v. 180, n. 6, SI, p. 390-414, SEP 2019. (14/00591-1, 14/10488-3, 15/06281-7, 11/14658-2, 14/00041-1, 11/04956-6)

TAHIRA, ANA; MARQUES, FERNANDA; LISBOA, BIANCA; FELTRIN, ARTHUR; BARBOSA, ANDRE; DE OLIVEIRA, KATIA CRISTINA; DE BRAGANCA PEREIRA, CARLOS ALBERTO; LEITE, RENATA; GRINBERG, LEA; SUEMOTO, CLAUDIA; et al. Are the 50's, the transition decade, in choroid plexus aging?. GEROSCIENCE, v. 43, n. 1, SI, FEB 2021. (14/10488-3, 14/00591-1, 14/00041-1, 11/14658-2)

NERI DE SOUZA REIS, VIVIANE; TAHIRA, ANA CAROLINA; DAGUANO GASTALDI, VINICIUS; MARI, PAULA; PORTOLESE, JOANA; FEIO DOS SANTOS, ANA CECILIA; LISBOA, BIANCA; MARI, JAIR; CAETANO, SHEILA C.; BRUNONI, DECIO; et al. Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity. GENES, v. 12, n. 9, SEP 2021. (14/00041-1, 14/00591-1, 11/14658-2)