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Polymorphism of the human muc genes.
J Fowler1, L Vinall, D Swallow
1Galton Laboratory, Department of Biology, Wolfson House, 4 Stephenson Way, London NW1 2HE.
Frontiers in Bioscience : a Journal and Virtual Library
|October 2, 2001
Summary
Mucin genes (MUC) feature variable tandem repeats. This review discusses repeat length and sequence variations and their connection to disease susceptibility.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Mucins, encoded by MUC genes, are characterized by extensive tandem repeat regions.
- These tandem repeat regions constitute a significant portion of the coding sequence.
- Recent research highlights allelic length variation and nucleotide/amino-acid changes within these repeats.
Purpose of the Study:
- To review the length and sequence variability of MUC gene tandem repeats.
- To explore the implications of this variability in disease susceptibility.
Main Methods:
- Literature review of studies on MUC gene tandem repeat regions.
- Analysis of reported allelic length variation.
- Examination of nucleotide and amino-acid sequence variations within repeat units.
Main Results:
- MUC genes exhibit substantial allelic length variation in tandem repeat regions.
- Significant person-to-person variation exists in nucleotide and amino-acid sequences of repeat units.
- Variability in tandem repeats is linked to potential roles in disease.
Conclusions:
- The extensive length and sequence variability of MUC gene tandem repeats are key features.
- This genetic variability may influence an individual's susceptibility to various diseases.