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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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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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Chromosomal Theory of Inheritance01:39

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In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
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Mutations01:39

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Mutations01:35

Mutations

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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.
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Inheritance of Chromatin Structures03:17

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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Non-nuclear Inheritance01:29

Non-nuclear Inheritance

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Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm⁠—such as chloroplasts and mitochondria⁠—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
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Related Experiment Video

Updated: Feb 11, 2026

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
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Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

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MERTK mutation update in inherited retinal diseases.

Isabelle Audo1,2,3, Saddek Mohand-Said1,2, Elise Boulanger-Scemama1,4

  • 1Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

Human Mutation
|April 17, 2018
PubMed
Summary

Mutations in MER tyrosine kinase (MERTK) cause severe inherited retinal dystrophies. This study identifies 79 MERTK variants, including 11 novel ones, in 1,195 patients, impacting future gene therapies.

Keywords:
MERTKinherited retinal dystrophymutation prevalencemutation spectrum

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • MER tyrosine kinase (MERTK) is crucial for photoreceptor health in the retinal pigment epithelium.
  • MERTK mutations are linked to severe inherited retinal dystrophies (IRDs).

Purpose of the Study:

  • To comprehensively review MERTK disease-causing variants and associated phenotypes.
  • To analyze a large cohort of IRD cases for MERTK mutations and report novel findings.

Main Methods:

  • Literature review of MERTK variants.
  • Genotyping of 1,195 inherited retinal dystrophies index cases.
  • Comprehensive analysis of MERTK mutation spectrum.

Main Results:

  • Identified 79 MERTK variants in IRD patients, including 11 novel mutations.
  • Detailed the spectrum of MERTK mutations: missense, nonsense, splice defects, deletions, duplications.
  • MERTK mutations account for approximately 2% of severe IRD cases.

Conclusions:

  • MERTK mutations are a significant cause of severe inherited retinal dystrophies.
  • These findings are vital for developing targeted therapies like gene replacement and cell-based treatments.