Cis-Acting Regulatory Variation in the Human Genome
2004; American Association for the Advancement of Science; Volume: 306; Issue: 5696 Linguagem: Inglês
10.1126/science.1101659
ISSN1095-9203
AutoresTomi Pastinen, Thomas J. Hudson,
Tópico(s)Genetic Syndromes and Imprinting
ResumoThe systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.
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