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Related Experiment Videos

Polymorphisms in the Human SNAIL (SNAI1) gene.

K Okajima1, W A Paznekas, T Burstyn

  • 1Department of Pediatrics, Center for Craniofacial Development and Disorders, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA.

Molecular and Cellular Probes
|February 13, 2001
PubMed
Summary

Researchers identified genetic variations in the human SNAIL gene, specifically single nucleotide polymorphisms (SNPs) and a GGG/GGGG repeat in non-coding regions. These findings are crucial for understanding gene regulation during development.

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Area of Science:

  • Developmental Biology
  • Human Genetics
  • Molecular Biology

Background:

  • The human SNAIL protein is essential for embryonic development, particularly in forming mesoderm and neural crest cells.
  • SNAIL protein features characteristic zinc-finger motifs crucial for its function.
  • The SNAI1 gene, encoding the SNAIL protein, consists of three exons.

Purpose of the Study:

  • To identify and characterize genetic variations within the non-coding regions of the human SNAI1 gene.
  • To develop methods for detecting these identified polymorphisms.
  • To screen a sample of CEPH DNAs for the presence of these genetic variations.

Main Methods:

  • Polymerase Chain Reaction (PCR) was employed to amplify specific regions of the SNAI1 gene.
  • Restriction enzyme digestion was used to detect single nucleotide polymorphisms (SNPs).

Related Experiment Videos

  • Analysis of DNA samples from the Centre d'Etude du Polymorphisme Humain (CEPH) panel.

    • Main Results:

    • Three SNPs were identified in non-coding regions of the SNAI1 gene: two in the 5' untranslated region (5'UTR) and one in intron 1.
    • A GGG/GGGG repeat polymorphism was also identified within intron 1.
    • These polymorphisms were detectable using PCR and restriction enzyme digestion.

    Conclusions:

    • Novel genetic variations, including SNPs and a repeat polymorphism, have been identified in the non-coding regulatory regions of the human SNAI1 gene.
    • These polymorphisms can be readily detected using standard molecular techniques.
    • The identified variations provide potential markers for genetic studies related to SNAI1 function and human development.