Cargando…

A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations

The allele fraction (AF) distribution, occurrence rate, and evolutionary contribution of postzygotic single-nucleotide mosaicisms (pSNMs) remain largely unknown. In this study, we developed a mathematical model to describe the accumulation and AF drift of pSNMs during the development of multicellula...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ye, Adam Yongxin, Dou, Yanmei, Yang, Xiaoxu, Wang, Sheng, Huang, August Yue, Wei, Liping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028137/ https://www.ncbi.nlm.nih.gov/pubmed/29875290 http://dx.doi.org/10.1101/gr.230003.117

Ejemplares similares

Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
por: Dou, Yanmei, et al.
Publicado: (2017)

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
por: Huang, August Yue, et al.
Publicado: (2017)

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals
por: Yang, Xiaoxu, et al.
Publicado: (2020)

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs
por: Huang, August Yue, et al.
Publicado: (2018)

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
por: Vabres, Pierre, et al.
Publicado: (2019)

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals
por: Huang, August Y, et al.
Publicado: (2014)

Exploring the biological role of postzygotic and germinal de novo mutations in ASD
por: Alonso-Gonzalez, A., et al.
Publicado: (2021)

Postzygotic mosaicism in cerebral cavernous malformation
por: Rath, Matthias, et al.
Publicado: (2020)

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations
por: Rath, Matthias, et al.
Publicado: (2016)

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
por: Nishioka, Masaki, et al.
Publicado: (2021)

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome
por: Xu, Xiaojing, et al.
Publicado: (2015)

A characterization of postzygotic mutations identified in monozygotic twins
por: Ouwens, Klaasjan G., et al.
Publicado: (2018)

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases
por: Bernkopf, Marie, et al.
Publicado: (2017)

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
por: Alter, Svenja, et al.
Publicado: (2022)

Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB
por: RAMSPACHER, Jeanne, et al.
Publicado: (2022)

De novo mutations, genetic mosaicism and human disease
por: Mohiuddin, Mohiuddin, et al.
Publicado: (2022)

Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia
por: Singh, Shiva M., et al.
Publicado: (2020)

Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia
por: Hong, Yaqiang, et al.
Publicado: (2022)

Mosaicism and incomplete penetrance of PCDH19 mutations
por: Liu, Aijie, et al.
Publicado: (2019)

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
por: Nicolas, Gaël, et al.
Publicado: (2022)

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
por: Wright, C. F., et al.
Publicado: (2019)

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
por: Latorre-Pellicer, Ana, et al.
Publicado: (2021)

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
por: Kinsler, Veronica A, et al.
Publicado: (2013)

Quantifying the fraction of new mutations that are recessive lethal
por: Wade, Emma E, et al.
Publicado: (2023)

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
por: Rivière, Jean-Baptiste, et al.
Publicado: (2012)

Quantifying concordant genetic effects of de novo mutations on multiple disorders
por: Guo, Hanmin, et al.
Publicado: (2022)

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
por: Hsieh, Alexander, et al.
Publicado: (2020)

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
por: Lima Cunha, Dulce, et al.
Publicado: (2020)

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
por: Wright, C. F., et al.
Publicado: (2022)

De novo mosaic MECP2 mutation in a female with Rett syndrome
por: Alexandrou, Angelos, et al.
Publicado: (2019)

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
por: Grossi, Alice, et al.
Publicado: (2021)

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
por: Wen, Yongxin, et al.
Publicado: (2023)

The allele-frequency spectrum in a decoupled Moran model with mutation, drift, and directional selection, assuming small mutation rates
por: Vogl, Claus, et al.
Publicado: (2012)

Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease
por: KOGA, Hiroshi, et al.
Publicado: (2023)

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism
por: Robberecht, Caroline, et al.
Publicado: (2012)

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
por: Zuntini, Roberta, et al.
Publicado: (2023)

Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?
por: Cohen, Philip R.
Publicado: (2021)

Can postzygotic mutation in beta-actin be a common genetic etiology for Poland’s syndrome and Becker’s nevus syndrome?
por: Chandran, Suresh, et al.
Publicado: (2021)

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
por: Yang, Xiaoxu, et al.
Publicado: (2017)

Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
por: Friedman, E, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_c0erbk43nj0j152jau4rdb33j0