Chapter

Regulation of Transcription, Splicing and Translation

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI: http://dx.doi.org/10.1093/med/9780195379631.003.0005
Regulation of Transcription, Splicing and Translation

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  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics

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Insights into regulation of gene expression have expanded significantly through availability of genome sequence information, enhanced capabilities for transcription profiling, and analysis of chromatin modification. In addition, improved microscopic technologies and molecular labeling techniques allow for more detailed analysis of cellular and organelle morphology and for real time studies of gene expression, cell divisions, and cell migration. Together, these advances improve understanding of temporal and spatial gene expression and their roles in cell and tissue differentiation. These insights lead progressively to improved understanding of genotype–phenotype relationships and of mechanisms underlying genesis of unusual or abnormal phenotypes.

Chapter.  8725 words.  Illustrated.

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

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