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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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The mouse Engrailed genes: a window into autism.

Barbara Kuemerle1, Forrest Gulden, Natalie Cherosky

  • 1Department of Neuroscience, Case Western Reserve School of Medicine, Cleveland, OH 44106, USA.

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|October 24, 2006
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Engrailed genes offer insights into autism spectrum disorder (ASD) etiology. En2 knock-out mice show cerebellar and amygdala abnormalities, suggesting a link between Engrailed genes and autism

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) presents complex behavioral and neuroanatomical challenges.
  • The etiology of ASD is multifactorial and not fully understood.
  • Engrailed genes are implicated in neurodevelopment and have been linked to ASD.

Purpose of the Study:

  • To investigate the role of Engrailed genes in the neurobiological underpinnings of autism spectrum disorder.
  • To examine the effects of Engrailed gene knock-outs on brain structure and behavior relevant to ASD.

Main Methods:

  • Utilizing Engrailed-1 (En1) and Engrailed-2 (En2) knock-out mouse models.
  • Analyzing neuroanatomical abnormalities, specifically in the cerebellum and amygdala.
  • Investigating potential molecular mechanisms and gender-specific differences.

Main Results:

  • En2 knock-out mice exhibit cerebellar abnormalities mirroring those in autistic individuals.
  • A distinct anterior shift in amygdala position was observed in the cerebral cortex of En2 knock-out mice.
  • Initial analysis of En1 knock-out mice suggests insights into molecular mechanisms and gender differences in ASD.

Conclusions:

  • Engrailed genes, particularly En2, are significantly associated with autism spectrum disorder.
  • Engrailed gene function is crucial for normal brain development relevant to ASD.
  • These findings open new research avenues into the genetic and molecular basis of autism.