Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.

Molecular Genetics & Genomic Medicine
Zhongzhong ChenFang Chen

Abstract

The aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias. We compared gene expression profiles by RNA sequencing from five non-hypospadiac foreskins, five mild hypospadiac foreskins, and five severe hypospadiac foreskins. In addition, to identify rare coding variants with large effects on hypospadias risk, we carried out whole exome sequencing in three patients in a hypospadias family. The average expression of androgen receptor (AR) and CYP19A1 were significantly decreased in severe hypospadias (p < .01) and mild hypospadias (p < .05), whereas expression of several other androgen metabolism enzymes, including CYP3A4, HSD17B14, HSD3B7, HSD17B7, CYP11A1 were exclusively significantly expressed in severe hypospadias (p < .05). Compound rare damaging mutants of AR gene with HSD3B1 and SLC25A5 genes were identified in the different severe hypospadias. In conclusion, our findings demonstrated that dysregulation of AR and CYP19A1 could play a crucial role in the development of hypospadias. Inconsistent AR expression may be caused by the feedback loop of ESR1 signaling or combined genetic effects with other risk genes. This findings complement the possible role of AR triggere...Continue Reading

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Datasets Mentioned

BETA
PRJEB4337

Methods Mentioned

BETA
exome sequencing
circumcision

Software Mentioned

PolyPhen
R
Mega
STAR
Ensembl
FastQC
CLUSTALW
Skewer
limma
GeneSense

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