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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

C Masotti^1,2, L A Brito¹, A C Nica^3,4,5

¹1 Department of Genetics and Evolutionary Biology, University of São Paulo, São Paulo, SP, Brazil.

Journal of Dental Research

|October 21, 2017

Summary

This summary is machine-generated.

Researchers identified a new genetic risk factor, rs1063588, for nonsyndromic cleft lip with or without cleft palate (NSCL/P). This DNA variant affects the expression of the MRPL53 gene, crucial for facial development.

Keywords:

cleft lip cleft palate genetic variation mitochondrial ribosomes risk factors single nucleotide polymorphism

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Area of Science:

Genetics
Developmental Biology
Genomics

Background:

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation with complex genetic underpinnings.
Understanding genetic variants influencing gene expression in relevant tissues is crucial for dissecting disease susceptibility.

Purpose of the Study:

To identify genetic variants with regulatory roles in the orbicularis oris muscle (OOM) associated with NSCL/P.
To investigate the functional impact of these variants on gene expression in OOM-derived cells.

Main Methods:

Mesenchymal stem cells were derived from OOM samples of NSCL/P patients.
Cis-expression quantitative trait loci (cis-eQTL) analysis was performed to correlate genetic variants with gene expression.
An association study in a Brazilian cohort identified novel susceptibility loci.

Main Results:

Significant cis-eQTLs were detected in OOM cells.
A novel NSCL/P susceptibility locus, rs1063588, was discovered, acting as the top eQTL for the MRPL53 gene.
The association signal was primarily driven by Native American ancestry within the Brazilian sample.

Conclusions:

The study highlights the importance of analyzing functional effects of genetic variants on gene expression in disease-relevant tissues.
rs1063588 represents a novel genetic risk factor for NSCL/P, implicating MRPL53 in facial morphogenesis.
Sampling admixed populations is valuable for uncovering genetic associations in complex diseases.