5' flanking region

The 5' flanking region is a region of DNA that is adjacent to the 5' end of the gene. The 5' flanking region contains the promoter, and may contain enhancers or other protein binding sites. It is the region of DNA that is not transcribed into RNA.

Polymorphisms

Flanking SNPs are Single nucleotide polymorphisms (SNP) that appear in the flanking region. Polymorphisms in this region can lead to changes in the regulation of transcription.[1] They have also been associated with a number of diseases. A 12 base pair insertion in the 5' flanking region of the Cystatin B gene has been linked to some individuals with Unverricht-Lundborg disease.[2] Polymorphisms in the 5' flanking region of the DRD4 gene have been linked to ADHD, schizophrenia and methamphetamine abuse.[3] Insertions and deletions in the 5' flanking region of the insulin gene have been associated with type 2 diabetes.[4][5] Polymorphisms in the 5' flanking region of the gene coding for oxytocin have been linked to mutations in promoter function, ultimately leading to potential disorders related to altered oxytocin levels and functionality.[6]

References

  1. ↑ Hayashi S, Watanabe J, Kawajiri K (Oct 1991). "Genetic polymorphisms in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene.". J Biochem. 110 (4): 559–65. PMID 1778977.
  2. ↑ Lafrenière RG; et al. (Mar 1997). "Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.". Nat. Genet. 15 (3): 298–302. doi:10.1038/ng0397-298. PMID 9054946.
  3. ↑ D'Souza UM; et al. (Nov 2004). "Functional effects of a tandem duplication polymorphism in the 5'flanking region of the DRD4 gene.". Biol Psychiatry. 56 (9): 691–7. doi:10.1016/j.biopsych.2004.08.008. PMID 15522254.
  4. ↑ Rotwein PS; et al. (1983). "Polymorphism in the 5' flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes.". The New England Journal of Medicine. 308 (2): 65–71. doi:10.1056/NEJM198301133080202. PMID 6292721.
  5. ↑ P Rotwein; et al. (September 1981). "Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes". Science. 213 (4512): 1117–1120. doi:10.1126/science.6267694.
  6. ↑ Fields, R. L.; Gainer, H. (2015-09-01). "The −216- to −100-bp Sequence in the 5′-Flanking Region of the Oxytocin Gene Contains a Cell-Type Specific Regulatory Element for its Selective Expression in Oxytocin Magnocellular Neurones". Journal of Neuroendocrinology. 27 (9): 702–707. doi:10.1111/jne.12299. ISSN 1365-2826.


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