Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis

Understanding the mechanisms that underlie de novo mutations (DNMs) can be essential for interpreting human evolution, including aspects such as rapidly diverging genes, conservation of non-coding regulatory elements, and somatic DNA adaptation, among others. DNM accumulation in Homo sapiens is ofte...

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Veröffentlicht in:	PloS one 2024-07, Vol.19 (7), p.e0305832
Hauptverfasser:	Hong, Jeong S, Tindall, Janice M, Tindall, Samuel R, Sorscher, Eric J
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Analysis Binomial distribution Bioaccumulation Biology and Life Sciences Computer simulation Conserved sequence Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis - metabolism Cystic Fibrosis Transmembrane Conductance Regulator - genetics Deoxyribonucleic acid DNA DNA methylation Evolution Evolution, Molecular Evolutionary biology Evolutionary conservation Evolutionary genetics Exons Gene polymorphism Genes Genetic aspects Genetic polymorphisms Genome, Human Genomic analysis Genomics - methods Haplotypes Humans Medicine and Health Sciences Mutation Natural selection Polymorphism Polymorphism, Single Nucleotide Proteins Pseudogenes Ratios Regulatory sequences Single-nucleotide polymorphism
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