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Related Concept Videos

Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Epistasis01:39

Epistasis

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...
Genetic Lingo01:11

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Overview
Pleiotropy01:33

Pleiotropy

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,...
Epistasis Analysis01:09

Epistasis Analysis

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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Genotype versus phenotype: human pigmentation.

Gillian Tully1

  • 1The Forensic Science Service Ltd., Trident Court, Solihull Parkway, Birmingham B37 7YN, United Kingdom. gillian.tully@fss.pnn.police.uk

Forensic Science International. Genetics
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

This study reviews human pigmentation genes, like the melanocortin 1 receptor (MC1R), and their role in hair and skin color. It also presents a forensic test using MC1R SNPs for predicting traits from crime scene DNA.

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Area of Science:

  • Genetics
  • Forensic Science
  • Human Biology

Background:

  • Human hair and skin color exist on a continuous spectrum, influenced by complex genetic factors.
  • While many pigmentation genes remain unidentified, key genes such as the melanocortin 1 receptor (MC1R) have been characterized.
  • Understanding these genetic underpinnings is crucial for various applications, including forensic investigations.

Purpose of the Study:

  • To outline the function and known mutations of MC1R and other significant human pigmentation genes (ASIP, MATP, SLC24A5, TYR, TYRP1, OCA2).
  • To present a forensic test utilizing MC1R single nucleotide polymorphisms (SNPs).
  • To discuss the forensic utility and ethical considerations of predicting phenotypic traits from forensic samples.

Main Methods:

  • Literature review of known human pigmentation genes and their functions.
  • Characterization of mutations within key genes, focusing on MC1R.
  • Development and presentation of a forensic genotyping test based on MC1R SNPs.

Main Results:

  • Detailed functional information and mutation data for MC1R, ASIP, MATP, SLC24A5, TYR, TYRP1, and OCA2 are provided.
  • A specific forensic test leveraging MC1R SNPs for potential trait prediction is described.
  • The study establishes the foundation for using genetic markers to infer physical characteristics.

Conclusions:

  • MC1R and other pigmentation genes offer valuable targets for forensic genetic analysis.
  • The forensic application of predicting phenotypic traits from DNA holds significant potential but requires careful ethical consideration.
  • Future advancements may enhance the accuracy and scope of predicting traits from crime scene evidence.