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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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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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Mutation update for the PORCN gene.

Maria Paola Lombardi1, Saskia Bulk, Jacopo Celli

  • 1Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

Human Mutation
|April 8, 2011
PubMed
Summary
This summary is machine-generated.

Genetic defects in the PORCN gene cause Goltz-Gorlin syndrome. This review details PORCN mutations and introduces a new database for tracking these genetic variations.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Genetics

Background:

  • Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome (GGS) patients in 2007.
  • Subsequent research has identified diverse genetic defects in PORCN associated with GGS, as well as other conditions like angioma serpiginosum, pentalogy of Cantrell, and Limb-Body Wall Complex.

Purpose of the Study:

  • To review all published mutations in the PORCN gene to date.
  • To report seven new PORCN mutations and associated clinical data.
  • To establish a comprehensive, web-based locus-specific database for PORCN variants.

Main Methods:

  • Comprehensive literature review of published PORCN gene mutations.
  • Clinical data collection for seven newly identified mutations.
  • Development of a web-based database using Leiden Open (source) Variation Database (LOVD) software.

Main Results:

  • The review identified a large spectrum of genetic defects in the PORCN gene.
  • Seven novel PORCN mutations were identified and characterized with clinical data.
  • A PORCN variation database was established, currently containing 106 variants (68 mutations, 12 large rearrangements), totaling 80 unique mutations for GGS.

Conclusions:

  • The PORCN gene is implicated in a range of developmental disorders.
  • The developed LOVD database serves as a centralized resource for PORCN genetic variations.
  • This database will facilitate future research and clinical management of patients with PORCN-related conditions.