The impact of cis-acting polymorphisms on the human phenotype View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

Bryony L. Jones, Dallas M. Swallow

ABSTRACT

Cis-acting polymorphisms that affect gene expression are now known to be frequent, although the extent and mechanisms by which such variation affects the human phenotype are, as yet, only poorly understood. Key signatures of cis-acting variation are differences in gene expression that are tightly associated with regulatory SNPs or expression Quantitative Trait Loci (eQTL) and an imbalance of allelic expression (AEI) in heterozygous samples. Such cis-acting sequence differences appear often to have been under selection within and between populations and are also thought to be important in speciation. Here we describe the example of lactase persistence. In medical research, variants that affect regulation in cis have been implicated in both monogenic and polygenic disorders, and in the metabolism of drugs. In this review we suggest that by further understanding common regulatory variations and how they interact with other genetic and environmental variables it will be possible to gain insight into important mechanisms behind complex disease, with the potential to lead to new methods of diagnosis and treatments. More... »

PAGES

13-23

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  • Journal

    TITLE

    The HUGO Journal

    ISSUE

    1-4

    VOLUME

    5

    Author Affiliations

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s11568-011-9155-4

    DOI

    http://dx.doi.org/10.1007/s11568-011-9155-4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1022466047

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23205161


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    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s11568-011-9155-4'

    N-Triples is a line-based linked data format ideal for batch operations.

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    Turtle is a human-readable linked data format.

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    RDF/XML is a standard XML format for linked data.

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