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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Related Experiment Video

Updated: Apr 30, 2026

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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Mutations in RARS cause hypomyelination.

Nicole I Wolf1, Gajja S Salomons, Richard J Rodenburg

  • 1Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.

Annals of Neurology
|April 30, 2014
PubMed
Summary
This summary is machine-generated.

Genetic mutations in RARS cause hypomyelination, a challenging neurological disorder. This study identifies RARS gene mutations in patients with severe spasticity and nystagmus, aiding diagnosis.

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Hypomyelinating disorders of the central nervous system present diagnostic challenges.
  • Many patients lack a definitive genetic diagnosis, hindering effective treatment.

Observation:

  • Researchers utilized magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing.
  • Four patients with hypomyelination and severe spasticity/nystagmus were analyzed.

Findings:

  • Compound heterozygous mutations in the RARS gene were identified in affected patients.
  • RARS encodes arginyl-tRNA synthetase, crucial for RNA translation and a component of the multisynthetase complex.

Implications:

  • This discovery offers a potential genetic target for diagnosing hypomyelinating disorders.
  • Understanding RARS's role in the multisynthetase complex sheds light on myelination processes.