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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene.

G K Whitfield1, L S Remus, P W Jurutka

  • 1Department of Biochemistry, College of Medicine, 1501 N. Campbell Ave., University of Arizona, Tucson, AZ 85724, USA.

Molecular and Cellular Endocrinology
|May 30, 2001
PubMed
Summary

Two common human vitamin D receptor (hVDR) gene variations significantly impact its activity. Simultaneous analysis of these polymorphisms reveals distinct high and low activity groups, suggesting a third genetic factor.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • The vitamin D receptor (VDR) plays a crucial role in calcium homeostasis and gene regulation.
  • Common genetic variations in the VDR gene may influence its function and associated health outcomes.

Purpose of the Study:

  • To investigate the functional significance of two specific human VDR gene polymorphisms.
  • To determine how these polymorphisms affect VDR transcriptional activity in human cells.

Main Methods:

  • Genotyping of VDR polymorphisms at the Fok I (F/f) and exon IX L/S sites in 20 human fibroblast cell lines.
  • Measurement of endogenous VDR transcriptional activity using a vitamin D-responsive reporter gene assay.

Main Results:

  • Observed VDR activity varied from 2- to 100-fold induction by the hormone 1,25-dihydroxyvitamin D(3).
  • The F and L biallelic forms of the polymorphisms were associated with higher VDR activity.
  • Statistically significant differences in VDR activity emerged only when considering both polymorphisms simultaneously.
  • A clear segregation into high and low VDR activity groups was observed, correlating with specific genotype combinations.

Conclusions:

  • Both the Fok I (F/f) and exon IX (L/S) polymorphisms in the human VDR gene have functional significance.
  • Simultaneous analysis of these VDR polymorphisms provides a more accurate assessment of receptor activity.
  • Evidence suggests the existence of a third, unidentified genetic variable influencing VDR potency.