Format:
Online-Ressource (X, 283 p. 29 illus., 24 illus. in color, digital)
ISBN:
9781461416838
,
1280786442
,
9781280786440
Series Statement:
SpringerLink
Content:
In Gene Regulatory Sequences and Human Disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.
Content:
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
Note:
Description based upon print version of record
,
Gene Regulatory Sequences and Human Disease; Preface; Contents; Contributors; Chapter 1: Gene Regulatory Elements; 1.1 Introduction; 1.2 The Different Kinds of Gene Regulatory Elements; 1.2.1 Promoters; 1.2.2 Enhancers; 1.2.3 Silencers; 1.2.4 Insulators; 1.2.5 Locus Control Region; 1.3 Techniques to Identify Gene Regulatory Elements; 1.3.1 DNase I Hypersensitive Sites; 1.3.2 Comparative Genomics; 1.3.3 Chromatin Immunoprecipitation (ChIP); 1.3.4 Chromatin Conformation Capture (3C); 1.4 Techniques to Functionally Characterize Gene Regulatory Elements; 1.4.1 Promoters; 1.4.2 Enhancers
,
1.4.3 Silencers1.4.4 Insulators; 1.5 Summary; References; Chapter 2: The Hemoglobin Regulatory Regions; 2.1 Introduction; 2.1.1 Hemoglobin Proteins; 2.1.2 Developmental Regulation of Globin Gene Expression; 2.1.3 e -Globin Gene Regulation; 2.1.4 g -Globin Gene Regulation; 2.1.5 b-Globin Gene Regulation; 2.2 Hemoglobin Variants and Human Diseases; 2.2.1 g-Globin Gene Mutations; 2.2.2 b-Globin Gene Mutations; 2.2.2.1 Sickle Cell Disease; 2.2.2.2 b -Thalassemia; 2.2.3 a-Thalassemia; 2.3 Summary; References; Chapter 3: Regulatory Polymorphisms and Osteoporosis; 3.1 Introduction
,
3.1.1 Pathophysiology3.1.2 Genetic Architecture of Osteoporosis; 3.2 Regulatory Variants and Osteoporosis; 3.2.1 Estrogen Receptor; 3.2.2 Type 1 Collagen; 3.2.3 Vitamin D Receptor; 3.2.4 Other Regulatory Variants; 3.3 Conclusions; References; Chapter 4: Gene Regulation in Van Buchem Disease; 4.1 Introduction; 4.1.1 Clinical and Radiological Features of Sclerosteosis and Van Buchem Disease; 4.1.2 Van Buchem Disease; 4.1.3 Sclerosteosis; 4.1.4 Differences Between Van Buchem Disease and Sclerosteosis; 4.2 Genetics of VB and Sclerosteosis; 4.3 Sclerostin Protein and Its Expression Pattern
,
4.4 Characterizing the Van Buchem Deletion Region4.4.1 Molecular and Phenotypic Characterization of Van Buchem Transgenic Mouse Models; 4.4.2 Comparative Sequence Analysis of VB Region and Enhancer Assays; 4.4.3 Regulation of ECR5 by Parathyroid Hormone (PTH) and Mef2 Transcription Factors; 4.5 Animal Models of Sclerosteosis and Van Buchem Disease; 4.5.1 Targeted Deletion of SOST Causes High Bone Mass; 4.5.2 Targeted Deletion of ECR5 Causes High Bone Mass; 4.6 Concluding Remarks; References; Chapter 5: Cis -Regulatory Enhancer Mutations are a Cause of Human Limb Malformations
,
5.5.1 BMP2 Limb Enhancer Duplications Cause Brachydactyly Type A2
,
5.1 Human Limb Malformations5.2 Cis -regulatory Enhancers and Gene Regulation; 5.2.1 Identifying and Studying Enhancers; 5.2.2 Modular Enhancers and Human Disease; 5.3 Limb Development: Tissue Patterning Along Three Axes; 5.3.1 Early Development and Axis Speci fi cation; 5.3.2 Limb Structures and Development; 5.4 The ZRS Enhancer in Limb Development; 5.4.1 Identifying the ZRS; 5.4.2 Point Mutations Within the ZRS Region; 5.4.3 ZRS Duplications and Complex Polysyndactyly; 5.4.4 ZRS and Acheiropodia; 5.4.5 Dif fi culties in Linking ZRS Mutations to Phenotypes; 5.4.6 ZRS Looping; 5.5 Brachydactyly
Additional Edition:
ISBN 9781461416821
Additional Edition:
Buchausg. u.d.T. ISBN 978-1-461-41682-1
Language:
English
Subjects:
Biology
Keywords:
Humangenetik
;
Genregulation
DOI:
10.1007/978-1-4614-1683-8
Bookmarklink
