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Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.

Guney Bademci1, Clemer Abad1, Filiz B Cengiz1

  • 1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

The Journal of Clinical Investigation
|May 6, 2020
PubMed
Summary
This summary is machine-generated.

Genetic deletions disrupting GDF6 regulation cause cochlear aplasia, a form of congenital deafness. This study identifies key noncoding elements essential for hearing organ development in mammals.

Keywords:
Genetic diseasesGeneticsOrganogenesisOtology

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Area of Science:

  • Genetics
  • Developmental Biology
  • Otolaryngology

Background:

  • The molecular basis of mammalian cochlear development is poorly understood.
  • Nonsyndromic cochlear aplasia is a congenital hearing disorder.
  • Identifying genetic causes is crucial for understanding developmental defects.

Purpose of the Study:

  • To investigate the genetic underpinnings of nonsyndromic cochlear aplasia.
  • To identify novel genes and regulatory elements involved in cochlear development.
  • To elucidate the role of GDF6 in early cochlear formation.

Main Methods:

  • Genome sequencing in affected families.
  • Analysis of noncoding deletions on chromosome 8.
  • Induced pluripotent stem cell differentiation from patient-derived cells.
  • Gene expression analysis (GDF6).
  • Gdf6 knockout mouse model creation and phenotyping.

Main Results:

  • Identified homozygous deletions in a noncoding region downstream of GDF6 in patients.
  • Observed reduced GDF6 expression in otic progenitor cells from affected individuals.
  • Gdf6 knockout mice exhibited cochlear aplasia, mirroring the human condition.
  • Demonstrated the necessity of cis-regulatory elements for GDF6 function in cochlear development.

Conclusions:

  • GDF6 is essential for mammalian cochlear development.
  • Disruptions in GDF6 cis-regulatory elements cause cochlear aplasia and deafness.
  • This study highlights the importance of noncoding regions in developmental gene regulation.