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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

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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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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Related Experiment Video

Updated: Dec 17, 2025

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
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Is NAT2 Gene Polymorphism Associated with Vitiligo?

Daya Shankar Lal Srivastava1, Kamal Aggarwal2, Gajendra Singh3

  • 1Department of BTMM and Biochemistry, PGIMS, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, India.

Indian Journal of Dermatology
|June 23, 2020
PubMed
Summary

Slow acetylator genotypes of the N-acetyltransferase-2 (NAT2) gene are linked to an increased risk of vitiligo. This genetic variation may play a role in disease predisposition and initiation, particularly in North Indian populations.

Keywords:
Acetylator genotypen-acetytransferase-2 geneoxidative stressvitiligo

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Area of Science:

  • Pharmacogenomics
  • Dermatology
  • Genetics

Background:

  • The N-acetyltransferase-2 (NAT2) enzyme is crucial for xenobiotic metabolism and protection against oxidative stress.
  • Polymorphisms in the NAT2 gene can disrupt antioxidant balance, potentially influencing vitiligo pathogenesis.
  • This study investigates the association between NAT2 gene single-nucleotide polymorphisms (SNPs) and vitiligo risk in North India.

Purpose of the Study:

  • To examine the association between NAT2 gene polymorphism and the risk of developing vitiligo.
  • To identify specific NAT2 SNPs (at positions 857, 481, and 590) as potential risk factors for vitiligo.

Main Methods:

  • Genomic DNA was extracted from 100 vitiligo patients and 160 healthy controls.
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to genotype NAT2 SNPs.
  • Analysis focused on identifying associations between specific NAT2 genotypes and vitiligo risk.

Main Results:

  • Slow acetylator NAT2 genotypes showed a significantly higher risk of vitiligo (OR = 2.85; P < 0.001).
  • Slow acetylator genotypes were also associated with a higher risk of lower disease severity (1%-10% body surface area).

Conclusions:

  • The NAT2 slow acetylator genotype is significantly associated with an increased risk of vitiligo.
  • These findings suggest a role for NAT2 genotype in vitiligo predisposition and initiation.
  • Further large-scale epidemiological studies are warranted to confirm these preliminary results.