"A gene is a DNA sequence that can be transcribed into an RNA molecule and transferred to offspring organisms. Changes in DNA sequences that determine the structure and function of a gene are called mutations. Gene Mutations: Causes and Effects opens by exploring the physical, chemical, and biological agents that cause mutations interact with DNA, leading to genetic instability. Recent advances in next-generation sequencing have led to the discovery of new causative genes or those mutations. The authors describe the phenotypes and gene mutations, discussing genotype-phenotype correlations compared with previous reports. Lastly, one study analyses all conflicting data concerning the amplification of the ESR1 gene, particularly its ambiguous prevalence in both untreated tumors and tumors either responsive or unresponsive to antiestrogen therapy"--
Author(s): Helena M. Christoffersen
Series: Genetics - Research and Issues
Publisher: Nova Science Publishers
Year: 2020
Language: English
Pages: 136
City: New York
Contents
Preface
Types of Gene Mutations and Their Mechanisms
Abstract
1. Introduction
2. Gene
3. Mutation (Types and Causes)
3.1. Mutation Types
Point Mutation
Base Substitution Mutations
Indel (Insertion or Deletion) Mutations
Duplication
Repeat Expansion
Frameshift Mutations
3.2. Causes of a Mutation
3.2.1. Spontaneous Mutation
Functions and Properties of DNA Polymerases
Spontaneous Mutation Mechanisms
Error-Prone Replication Bypass
Errors Introduced during DNA Repair
Depurination
Deamination
Tautomeric Shifts
Transposons
3.2.2. Induced Mutation
Chemical Mutagens
Biological Mutagens
4. Effects of Gene Mutations
5. Conclusion
References
Gene Mutations of Hereditary Motor Neuron Diseases
Abstract
1. Hereditary Spastic Paraplegias
1.1. SPG4
1.1.1. Family 1
1.1.2. Family 2
1.1.3. Family 3
1.1.4. Family 4
1.1.5. Family 5
1.2. SPG2
1.3. SPG17
1.4. SPG11
2. Charcot-Marie-Tooth Diseases
2.1. CMT4D
3．Amyotrophic Lateral Sclerosis
3.1 ALS1(SOD1)
Acknowledgments
References
ESR1 Gene Amplification in Breast Cancers Is an Effort for DNA Stabilization and a Consequential Tumor Response
Abstract
Introduction
Fundamental Roles of ER Signaling in the Physiology of Mammalians
Estrogen Regulated Genes Drive All Physiological Functions of Healthy Cells
Estrogen Activated ERs Recruit the Remnants of Genome Stabilizer Machinery Driving a Self Directed Death in Tumor Cells
Interplay between ESR1 Gene Copy and ER-Alpha Expression Ensures a BALANCE OF Cell Proliferation in Healthy Breasts
Upregulative and Down-Regulative Crosstalk between ER-Alpha and BRCA1 in Physiological and Malignant Cell Proliferations
Altered Crosstalk between ESR1 Gene Copy and ER Expression in Untreated Breast Cancers
ESR1 Amplification Serves as an Effort for DNA Stabilization in Either Antiestrogen Responsive or Resistant Tumors
Conclusion
References
Index
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