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Related Concept Videos

Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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Related Experiment Video

Updated: May 12, 2026

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
08:35

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes

Published on: July 17, 2021

Colorful DNA polymorphisms in humans.

Fan Liu1, Bei Wen, Manfred Kayser

  • 1Department of Forensic Molecular Biology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. f.liu@erasmusmc.nl

Seminars in Cell & Developmental Biology
|April 17, 2013
PubMed
Summary

Human DNA variations significantly impact traits like eye, hair, and skin color. Understanding pigmentation genetics aids disease association and forensic applications.

Keywords:
AssociationDNA polymorphismsForensic DNA phenotypingHumanPigmentationPrediction

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Last Updated: May 12, 2026

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
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The Visual Colorimetric Detection of Multi-nucleotide Polymorphisms on a Pneumatic Droplet Manipulation Platform
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Published on: September 27, 2016

Area of Science:

  • Genetics
  • Human Biology
  • Forensic Science

Background:

  • Human pigmentation, encompassing eye, hair, and skin color, is a complex polygenic trait.
  • Genetic variations play a crucial role in determining the diversity of human pigmentation.
  • Understanding these genetic underpinnings is vital for various scientific and forensic applications.

Purpose of the Study:

  • To review current knowledge on DNA-level variations influencing human pigmentation.
  • To highlight recent advancements in human pigmentation genetics.
  • To explore the association of pigmentation genes with diseases and their forensic utility.

Main Methods:

  • Literature review of studies on human pigmentation genetics.
  • Analysis of identified genes and DNA polymorphisms related to pigmentation traits.
  • Examination of disease associations, particularly with skin cancers.
  • Assessment of predictive power for human eye, hair, and skin colors.

Main Results:

  • Numerous genes and DNA polymorphisms have been identified as key determinants of human pigmentation.
  • Specific genetic variations are associated with variations in iris, hair, and skin color.
  • These genetic factors show associations with diseases, notably skin cancers.
  • Pigmentation genetics offer predictive capabilities for physical traits and forensic identification.

Conclusions:

  • DNA-level variations are fundamental to human pigmentation diversity.
  • Advances in pigmentation genetics have significant implications for understanding disease risk.
  • The genetic prediction of pigmentation traits holds promise for forensic science applications.