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Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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Related Experiment Video

Updated: May 24, 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 DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Marjolein H Willemsen1, Lisenka E L Vissers, Michèl A A P Willemsen

  • 1Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands.

Journal of Medical Genetics
|February 28, 2012
PubMed
Summary

Mutations in the DYNC1H1 gene are linked to severe intellectual disability and neuronal migration defects. These findings highlight DYNC1H1

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Published on: May 12, 2015

Area of Science:

  • Genetics and Neuroscience
  • Molecular Biology

Background:

  • DYNC1H1 encodes a key protein in cytoplasmic dynein 1, essential for retrograde axonal transport in neurons.
  • DYNC1H1 interacts with LIS1, where its haploinsufficiency causes severe human neuronal migration disorders like Miller-Dieker syndrome.

Purpose of the Study:

  • To characterize the clinical and molecular features of DYNC1H1 mutations.
  • To investigate the role of DYNC1H1 in neurological disorders.

Main Methods:

  • Family-based exome sequencing was employed to identify de novo mutations.
  • Patients with severe intellectual disability were analyzed.

Main Results:

  • Two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) were identified.
  • These mutations were found in patients with severe intellectual disability and varied neuronal migration defects.

Conclusions:

  • DYNC1H1 mutations are associated with a wide range of phenotypes, including intellectual disability and neuronal migration issues.
  • Previous findings of DYNC1H1 mutations in Charcot-Marie-Tooth disease type 2 and mouse models support its role in both central and peripheral nervous system functions.