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Intragenic retrocopies as a source of novel protein domains in humans

Grant number: 20/02413-4
Support Opportunities:Scholarships in Brazil - Doctorate (Direct)
Start date: April 01, 2020
End date: April 30, 2025
Field of knowledge:Biological Sciences - Biochemistry - Molecular Biology
Principal Investigator:Pedro Alexandre Favoretto Galante
Grantee:Rafael Luiz Vieira Mercuri
Host Institution: Hospital Sírio-Libanês. Sociedade Beneficente de Senhoras (SBSHSL). São Paulo , SP, Brazil
Associated research grant:18/15579-8 - Retroelements: a driving force generating genetic novelties in the human and mouse genome, AP.JP2
Associated scholarship(s):23/11391-2 - Combining full length transcription and bioinformatics pipelines to unravel the functional potential and improving annotation of retrocopies using a human population-scale dataset., BE.EP.DD

Abstract

Retrocopies of coding genes have been classified as processed and non-functional pseudogenes. Nowadays, it has been revealed that gene duplication intermediated by RNAs, the mechanism which generates retrocopies, holds a relevant role in the origin of novel genes in humans and other species. However, these studies are limited to specific examples and comprehensive analyses of the functional role of retrocopies are rare. Humans and mice have a similar number of retrocopies, 7500 on average, but few of the retrocopies are shared (less than 1%). Identifying the retrocopies fixed and, later, transcribed in these two species is extremely important. (AU)

News published in Agência FAPESP Newsletter about the scholarship:
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Scientific publications (4)
(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)
MICALI, DANILO; ROSA, JOICE SANTOS; OTA, VANESSA KIYOMI; MERCURI, RAFAEL LUIZ VIEIRA; SPINDOLA, LETICIA MARIA; BUGIGA, AMANDA VICTORIA GOMES; KAJITANI, GUSTAVO SATORU; MILANI, ANA CAROLINA COELHO; SALMERON, CAMILLA; SILVA, IVALDO; et al. hsa-miR-582-3p in umbilical cord blood is negatively associated with maternal exposure to childhood maltreatment. Epigenomics, v. N/A, p. 14-pg., . (19/21612-0, 18/15579-8, 20/02413-4)
CONCEICAO, HELENA B.; MERCURI, RAFAEL L., V; DE CASTRO, MATHEUS P. M.; OHARA, DANIEL T.; GUARDIA, GABRIELA D. A.; GALANTE, PEDRO A. F.. RCPedia: a global resource for studying and exploring retrocopies in diverse species. Bioinformatics, v. 40, n. 9, p. 5-pg., . (24/00078-4, 18/15579-8, 20/02413-4, 18/13613-4, 17/19541-2)
NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; YAMAMOTO, GUILHERME L.; WANG, JAQUELINE YU TING; ZVERINOVA, STEPANKA; KARP, TATIANA; NUNES, KELLY; MAGLIOCCO CERONI, JOSE RICARDO; DE CARVALHO, DIEGO LIMA; DA SILVA SIMOES, CARLOS EDUARDO; et al. Whole-genome sequencing of 1,171 elderly admixed individuals from Sao Paulo, Brazil. NATURE COMMUNICATIONS, v. 13, n. 1, p. 11-pg., . (12/24731-1, 20/02413-4, 14/50649-6, 13/08028-1, 18/15579-8, 15/25020-0, 17/19223-0, 13/17084-2)
DOUILLARD, VENCESLAS; SILVA, NAYANE DOS SANTOS BRITO; BOURGUIBA-HACHEMI, SONIA; NASLAVSKY, MICHEL S.; SCLIAR, MARILIA O.; DUARTE, YEDA A. O.; ZATZ, MAYANA; PASSOS-BUENO, MARIA RITA; LIMOU, SOPHIE; GOURRAUD, PIERRE-ANTOINE; et al. Optimal population-specific HLA imputation with dimension reduction. HLA, v. 103, n. 1, p. 14-pg., . (12/24731-1, 15/25020-0, 14/50931-3, 13/08028-1, 17/19223-0, 18/15579-8, 13/17084-2, 20/02413-4, 14/50649-6)