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Human and mouse disorders of pigmentation
Richard A Spritz1, Pei Wen Chiang, Naoki Oiso
1Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E Ninth Ave, B161, Denver, Colorado 80262, USA. richard.spritz@uchsc.edu
Current Opinion in Genetics & Development
|June 6, 2003
Summary
Genetic disorders of pigmentation, affecting pigmentary melanocytes, are now better understood through parallel studies of human patients and mice. These conditions are best viewed as disruptions in melanocyte development, function, or survival.
Area of Science:
- Genetics
- Developmental Biology
- Dermatology
Background:
- Disorders of pigmentation are among the earliest recognized genetic diseases.
- Their visually striking phenotypes stem from defects in pigmentary melanocytes.
- Understanding these conditions has significantly advanced in recent years.
Purpose of the Study:
- To review the current understanding of pigmentation disorders.
- To highlight the role of parallel studies in human patients and inbred mice.
- To reframe the classification of these diseases.
Main Methods:
- Systematic parallel study of human patients with pigmentation disorders.
- Comparative analysis with inbred mouse models exhibiting similar phenotypes.
- Review of recent advancements in the genetic and cellular understanding of melanocyte biology.
Main Results:
- Significant progress has been made in understanding the genetic basis of pigmentation disorders.
- Parallel studies in humans and mice have been crucial for this progress.
- Phenotypic similarities between human and mouse conditions facilitate research.
Conclusions:
- Disorders of pigmentation are best understood as abnormalities in melanocyte development.
- Dysfunction in melanocyte survival is a key factor in these diseases.
- A unified framework considering development, function, and survival offers a comprehensive view.