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Transcriptome analysis of cell culture from patients with Richieri-Costa-Pereira Syndrome

Grant number: 17/01716-0
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): April 01, 2017
Effective date (End): March 31, 2018
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Maria Rita dos Santos e Passos Bueno
Grantee:Giovanna Pontillo Guimarães
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal-recessive craniofacial disease characterized by defects of jaw fusion, micrognathia, glossoptosis, and bone anomalies. RCPS is caused by expansions in the 5'UTR region of the EIF4A3 gene, which leads to a decrease on its expression levels. EIF4A3 exerts basic cellular functions related to mRNA processing. The clinical set of RCPS suggests disorders in neural crest cell (NCC) development during embryogenesis. We performed RNA sequencing in NCCs from patients and controls to evaluate if lower levels of EIF4A3 interfere in the processing or expression of other important transcripts for craniofacial development. RNA sequencing results will be used to identify if differentially expressed genes and changes in alternative splicing are related to RCPS etiology. The identified transcripts will be validated with the use of real-time quantitative PCR and conventional PCR/Sanger sequencing. Candidate transcripts will be selected based on their functional relevance to the disease. The results generated by this project will be important to clarify how basic genetic/cellular mechanisms result in craniofacial malformations, and they will also open possibilities for research on therapeutic strategies. (AU)

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