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Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Fixing Double-strand Breaks02:04

Fixing Double-strand Breaks

The double-stranded structure of DNA has two major advantages. First, it serves as a safe repository of genetic information where one strand serves as the back-up in case the other strand is damaged. Second, the double-helical structure can be wrapped around proteins called histones to form nucleosomes, which can then be tightly wound to form chromosomes. This way, DNA chains up to 2 inches long can be contained within microscopic structures in a cell. A double-stranded break not only damages...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Elisa Degenkolbe1, Jana König, Julia Zimmer

  • 1Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany ; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.

Plos Genetics
|October 8, 2013
PubMed
Summary

A novel GDF5 mutation causes both synostoses syndrome 2 (SYNS2) and brachydactyly type A1 (BDA1) through simultaneous gain and loss of function. This dual mechanism impacts bone development and may offer insights into osteoarthritis.

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Area of Science:

  • Genetics and Developmental Biology
  • Molecular Biology
  • Skeletal Dysplasias

Background:

  • Growth and Differentiation Factor 5 (GDF5) is crucial for limb development and a susceptibility gene for osteoarthritis.
  • Mutations in GDF5 are linked to various skeletal malformations, including brachydactylies and synostoses syndromes.

Purpose of the Study:

  • To investigate a family with a combined SYNS2 and BDA1 phenotype.
  • To elucidate the molecular mechanism of a novel GDF5 mutation (p.W414R) causing these combined skeletal disorders.

Main Methods:

  • Chondrogenesis assays with primary mesenchymal cells.
  • Luciferase reporter gene assays.
  • Surface Plasmon Resonance analysis to compare GDF5 variants.

Main Results:

  • A single GDF5 point mutation (p.W414R) was identified in the affected family.
  • The GDF5(W414R) variant exhibits a dual pathomechanism: gain-of-function (insensitivity to NOGGIN, leading to SYNS2) and loss-of-function (reduced signaling via BMPR1A, leading to BDA1).
  • This mutation affects the overlapping interface of antagonist and receptor binding sites.

Conclusions:

  • A single GDF5 mutation can cause both SYNS2 and BDA1 through simultaneous gain and loss of function.
  • Understanding these dual mechanisms provides insights into GDF5's role in bone development.
  • These findings may contribute to understanding osteoarthritis pathophysiology.