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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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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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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Lingli Huang1, Lachlan A Jolly, Saffron Willis-Owen

  • 1Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.

American Journal of Human Genetics
|September 25, 2012
PubMed
Summary
This summary is machine-generated.

Researchers found a regulatory mutation linked to intellectual disability. This mutation causes overexpression of HCFC1, impacting brain cell development and neurite growth.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Genetic mutation discovery traditionally focuses on protein-coding regions.
  • Non-coding regions are less explored for disease-causing mutations.
  • Intellectual disability research seeks novel genetic underpinnings.

Purpose of the Study:

  • To investigate non-coding regulatory mutations in human disease.
  • To identify the genetic cause of X-linked intellectual disability in family MRX3.
  • To elucidate the role of HCFC1 in neural development.

Main Methods:

  • Targeted massively parallel resequencing of the Xq28 non-coding region.
  • Identification of mutations in the transcription factor YY1 binding site.
  • Functional studies using murine neural stem cells and hippocampal neurons.
  • X-exome sequencing in individuals with intellectual disability.

Main Results:

  • A regulatory mutation in the YY1 binding site was identified, leading to HCFC1 overexpression.
  • HCFC1 overexpression significantly increased astrocyte production in neural stem cells.
  • HCFC1 overexpression reduced neurite growth in hippocampal neurons.
  • Deleterious HCFC1 variants were found in individuals with intellectual disability.

Conclusions:

  • Regulatory mutations outside coding regions can cause human disease.
  • HCFC1 plays a critical role in normal brain function and development.
  • Aberrant HCFC1 levels are implicated in intellectual disability.