Gene Regulatory Sequences and Human Disease

• Corporate Author: SpringerLink (Online service)
• Other Authors: Ahituv, Nadav (Editor)
• Format: Electronic eBook
• Language: English
• Published: New York, NY : Springer New York : Imprint: Springer, 2012.
• Subjects: Medicine.; Human genetics.; Systems biology.; Developmental biology.; Biomedicine.; Human Genetics.; Developmental Biology.; Systems Biology.

Genes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how...

Table of Contents:

• Gene regulatory elements
• The Hemoglobin regulatory regions
• Regulatory polymorphisms and osteoporosis
• Gene regulation in Van Buchem disease
• Cis-regulatory enhancer mutations are a cause of human limb malformations
• Regulatory mutations leading to cleft lip and palate
• Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence
• Regulatory mutations in human hereditary deafness
• The contributions of RET non-coding variation to Hirschprung disease
• Cis-regulatory variation and cancer
• Cohesin and human diseases
• Epigenetics and human disease
• Index.