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Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

Updated: Jul 5, 2026

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
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Neurexin 1alpha structural variants associated with autism.

Jin Yan1, Katie Noltner, Jinong Feng

  • 1Department of Molecular Genetics, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010-3000, USA.

Neuroscience Letters
|May 21, 2008
PubMed
Summary

Ultra-rare structural variants in the neurexin 1alpha gene were identified in autism patients, suggesting a potential genetic predisposition. These findings highlight neurexins as potential targets for autism research.

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Published on: March 2, 2018

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Neurexins are presynaptic cell-adhesion molecules crucial for synaptic function.
  • Neuroligins, which bind to neurexins, are implicated in autism spectrum disorder.
  • Investigating genetic variations in neurexin genes may reveal autism predispositions.

Purpose of the Study:

  • To investigate the association between structural variants in the neurexin 1alpha gene and autism.
  • To determine if rare genetic mutations in neurexin 1alpha contribute to autism risk.

Main Methods:

  • Sequencing of coding regions and splice junctions of the neurexin 1alpha gene.
  • Comparative analysis of genetic variants in 116 Caucasian autism patients and 192 Caucasian controls.
  • Statistical analysis using Fisher's exact test to assess variant frequencies.

Main Results:

  • Five ultra-rare structural variants, including a splicing mutation, were found exclusively in autism patients.
  • One ultra-rare variant was identified in the control group.
  • A statistically significant difference in ultra-rare variant frequency was observed (5/116 in patients vs. 1/192 in controls, P=0.03).

Conclusions:

  • Ultra-rare structural variants in the neurexin 1alpha gene are significantly associated with autism.
  • These genetic variations are consistent with a predisposition to autism.
  • Neurexin 1alpha gene mutations represent a potential risk factor for autism spectrum disorder.