In biology, a mutation is the alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from errors during DNA replication, mitosis, and meiosis, or other types of damage to DNA (such as pyrimidine dimers that may be caused by exposure to radiation or carcinogens), which then may undergo error-prone repair (especially microhomology-mediated end joining), or cause an error during other forms of repair, or else may cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.
Components of the Book:
- Chapter 1
Reduced intrinsic DNA curvature leads to increased mutation rate
- Chapter 2
Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
- Chapter 3
PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor
- Chapter 4
A point mutation in the DNA-binding domain of HPV-2 E2 protein increases its DNA-binding capacity and reverses its transcriptional regulatory activity on the viral early promoter
- Chapter 5
Tag-based next generation sequencing: a feasible and reliable assay for EGFR T790M mutation detection in circulating tumor DNA of non small cell lung cancer patients
- Chapter 6
Analysis of BRAFV600E mutation and DNA methylation improves the diagnostics of thyroid fine needle aspiration biopsies
- Chapter 7
The 80-kb DNA duplication on BTA1 is the only remaining candidate mutation for the polled phenotype of Friesian origin
- Chapter 8
Investigating the relationship of DNA methylation with mutation rate and allele frequency in the human genome
- Chapter 9
Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
- Chapter 10
Integrative analysis of DNA methylation suggests down-regulation of oncogenic pathways and reduced somatic mutation rates in survival outliers of glioblastoma
- Chapter 11
Functional DNA quantification guides accurate next-generation sequencing mutation detection in formalin-fixed, paraffin-embedded tumor biopsies
- Chapter 12
Gene promoter and exon DNA methylation changes in colon cancer development – mRNA expression and tumor mutation alterations
- Chapter 13
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation
- Chapter 14
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family
- Chapter 15
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease
Readership:
Students, academics, teachers and other people attending or interested in DNA Mutation
Julio Montoya, Departamento de Bioquímica y Biología Molecular y Celular, Universidad de Zaragoza-CIBER de Enfermedades Raras (CIBERER)-Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Zaragoza, Spain
Angelica Bianco, Dipartimento di Scienze Mediche di Base, Neuroscienze e Organi di Senso - Università degli Studi Aldo Moro, Bari, Italy
Luigi Bisceglia, Ospedale Casa Sollievo della Sofferenza IRCCS, UOC Genetica Medica, San Giovanni Rotondo, Italy
Lucas B. Carey, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003, Barcelona, Spain
Peter C. Burger, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA
Hruban Carolyn, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA
and more...