Gene Regulatory Sequences and Human Disease

  • NadavĀ Ahituv

Table of contents

  1. Front Matter
    Pages i-x
  2. Nadav Ahituv
    Pages 1-17
  3. Betty S. Pace, Levi H. Makala
    Pages 19-40
  4. Huilin Jin, Stuart H. Ralston
    Pages 41-54
  5. Gabriela G. Loots
    Pages 55-71
  6. Brian C. Schutte, Walid D. Fakhouri, Daniel Zemke
    Pages 95-122
  7. Christopher T. Gordon, Sabina Benko, Jeanne Amiel, Stanislas Lyonnet
    Pages 123-136
  8. Jonathan E. Bird, Thomas B. Friedman
    Pages 137-168
  9. Zachary E. Stine, Andrew S. McCallion
    Pages 169-194
  10. Nora F. Wasserman, Marcelo A. Nobrega
    Pages 195-216
  11. Dongbin Xu, Ian D. Krantz
    Pages 217-251
  12. Angeliki Magklara, Stavros Lomvardas
    Pages 253-279
  13. Back Matter
    Pages 281-283

About this book


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 to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease.With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease.

Editors and affiliations

  • NadavĀ Ahituv
    • 1
  1. 1.Institute for Human GeneticsSan FranciscoUSA

Bibliographic information