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Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

https://doi.org/10.1101/314815
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/cncr.29643openalex-snapshot
Incidence of testicular germ cell tumors among US men by census region
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Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
inferredcites →https://doi.org/10.1016/j.ajhg.2011.12.017openalex-snapshot
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
inferredcites →https://doi.org/10.1016/j.ajhg.2013.05.001openalex-snapshot
Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection
inferredcites →https://doi.org/10.1016/j.ajhg.2014.07.003openalex-snapshot
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
inferredcites →https://doi.org/10.1016/j.ajhg.2015.05.008openalex-snapshot
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
inferredcites →https://doi.org/10.1016/j.ajhg.2017.05.013openalex-snapshot
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
inferredcites →https://doi.org/10.1016/j.ajhg.2017.07.016openalex-snapshot
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
inferredcites →https://doi.org/10.1016/j.ajhg.2017.12.001openalex-snapshot
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
inferredcites →https://doi.org/10.1016/j.cell.2017.09.042openalex-snapshot
Universal Patterns of Selection in Cancer and Somatic Tissues
inferredcites →https://doi.org/10.1016/j.celrep.2015.02.005openalex-snapshot
Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis
inferredcites →https://doi.org/10.1016/j.cytogfr.2005.03.001openalex-snapshot
Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
inferredcites →https://doi.org/10.1016/j.fertnstert.2007.04.037openalex-snapshot
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies
inferredcites →https://doi.org/10.1016/j.mrfmmm.2016.01.003openalex-snapshot
Polymerase specific error rates and profiles identified by single molecule sequencing
inferredcites →https://doi.org/10.1016/j.stem.2010.05.017openalex-snapshot
Mouse Germ Line Stem Cells Undergo Rapid and Stochastic Turnover
inferredcites →https://doi.org/10.1016/j.stem.2017.07.010openalex-snapshot
Therapy-Related Clonal Hematopoiesis in Patients with Non-hematologic Cancers Is Common and Associated with Adverse Clinical Outcomes
inferredcites →https://doi.org/10.1016/j.tig.2015.03.013openalex-snapshot
Somatic mosaicism: implications for disease and transmission genetics
inferredcites →https://doi.org/10.1016/s0015-0282(16)59120-1openalex-snapshot
Testicular involution in elderly men: comparison of histologic quantitative studies with hormone patterns
inferredcites →https://doi.org/10.1016/s0092-8674(04)00215-6openalex-snapshot
Mechanism of Activation of the RAF-ERK Signaling Pathway by Oncogenic Mutations of B-RAF
inferredcites →https://doi.org/10.1016/s0968-0004(03)00091-4openalex-snapshot
The ‘Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
inferredcites →https://doi.org/10.1038/nature11396openalex-snapshot
Rate of de novo mutations and the importance of father’s age to disease risk
inferredcites →https://doi.org/10.1038/nature21062openalex-snapshot
Prevalence and architecture of de novo mutations in developmental disorders
inferredcites →https://doi.org/10.1038/nature24018openalex-snapshot
Parental influence on human germline de novo mutations in 1,548 trios from Iceland
inferredcites →https://doi.org/10.1038/nbt.1754openalex-snapshot
Integrative genomics viewer
inferredcites →https://doi.org/10.1038/ng.2271openalex-snapshot
Detectable clonal mosaicism from birth to old age and its relationship to cancer
inferredcites →https://doi.org/10.1038/ng.3469openalex-snapshot
Timing, rates and spectra of human germline mutation
inferredcites →https://doi.org/10.1038/ng.3597openalex-snapshot
Parent-of-origin-specific signatures of de novo mutations
inferredcites →https://doi.org/10.1038/ng.470openalex-snapshot
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
inferredcites →https://doi.org/10.1038/nprot.2014.170openalex-snapshot
Detecting ultralow-frequency mutations by Duplex Sequencing
inferredcites →https://doi.org/10.1038/nrg.2017.117openalex-snapshot
Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
inferredcites →https://doi.org/10.1056/nejme1414288openalex-snapshot
Cancer Evolution Constrained by Mutation Order
inferredcites →https://doi.org/10.1056/nejmoa1408617openalex-snapshot
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
inferredcites →https://doi.org/10.1056/nejmoa1409405openalex-snapshot
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
inferredcites →https://doi.org/10.1056/nejmoa1709449openalex-snapshot
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain
inferredcites →https://doi.org/10.1073/pnas.0500267102openalex-snapshot
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
inferredcites →https://doi.org/10.1073/pnas.0801267105openalex-snapshot
A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations
inferredcites →https://doi.org/10.1073/pnas.0909738107openalex-snapshot
Stochastic fate of p53- mutant epidermal progenitor cells is tilted toward proliferation by UV B during preneoplasia
inferredcites →https://doi.org/10.1073/pnas.1008365107openalex-snapshot
Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors
inferredcites →https://doi.org/10.1073/pnas.1311381110openalex-snapshot
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline
inferredcites →https://doi.org/10.1073/pnas.1516123113openalex-snapshot
Deep sequencing as a probe of normal stem cell fate and preneoplasia in human epidermis
inferredcites →https://doi.org/10.1073/pnas.1521325113openalex-snapshot
Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes
inferredcites →https://doi.org/10.1073/pnas.232568699openalex-snapshot
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect
inferredcites →https://doi.org/10.1093/bioinformatics/btu356openalex-snapshot
Toward better understanding of artifacts in variant calling from high-coverage samples
inferredcites →https://doi.org/10.1093/dnares/dsw038openalex-snapshot
Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications
inferredcites →https://doi.org/10.1093/hmg/ddt260openalex-snapshot
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia
inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
inferredcites →https://doi.org/10.1101/gr.147686.112openalex-snapshot
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
inferredcites →https://doi.org/10.1101/gr.162131.113openalex-snapshot
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis
inferredcites →https://doi.org/10.1111/andr.12185openalex-snapshot
Cellular correlates of selfish spermatogonial selection
inferredcites →https://doi.org/10.1111/j.2047-2927.2013.00175.xopenalex-snapshot
Cellular evidence for selfish spermatogonial selection in aged human testes
inferredcites →https://doi.org/10.1126/science.1085710openalex-snapshot
Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line
inferredcites →https://doi.org/10.1126/science.1243148openalex-snapshot
Defining Stem Cell Dynamics in Models of Intestinal Tumor Initiation
inferredcites →https://doi.org/10.1126/science.aaa6806openalex-snapshot
High burden and pervasive positive selection of somatic mutations in normal human skin
inferredcites →https://doi.org/10.1126/science.aai8690openalex-snapshot
DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification
inferredcites →https://doi.org/10.1158/1078-0432.ccr-14-2124openalex-snapshot
MAP2K1 ( MEK1 ) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associated with Smoking
inferredcites →https://doi.org/10.1158/1078-0432.ccr-15-2377openalex-snapshot
Clinical and Molecular Characteristics of NF1 -Mutant Lung Cancer
inferredcites →https://doi.org/10.1158/2159-8290.cd-13-0617openalex-snapshot
The Genetic Landscape of Clinical Resistance to RAF Inhibition in Metastatic Melanoma
inferredcites →https://doi.org/10.1176/appi.ajp.2013.12101352openalex-snapshot
“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders
inferredcites →https://doi.org/10.1182/blood-2017-02-769869openalex-snapshot
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
inferredcites →https://doi.org/10.1186/gb-2011-12-11-r112openalex-snapshot
Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems
inferredcites →https://doi.org/10.1186/s12881-015-0247-1openalex-snapshot
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
inferredcites →https://doi.org/10.1371/journal.pbio.0050224openalex-snapshot
The Molecular Anatomy of Spontaneous Germline Mutations in Human Testes
inferredcites →https://doi.org/10.1371/journal.pgen.1000558openalex-snapshot
The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect
inferredcites →https://doi.org/10.1371/journal.pgen.1002420openalex-snapshot
Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B
inferredcites →https://doi.org/10.1371/journal.pgen.1006315openalex-snapshot
Multi-nucleotide de novo Mutations in Humans
inferredcites →https://doi.org/10.1371/journal.pone.0042382openalex-snapshot
Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men
inferredcites →https://doi.org/10.1371/journal.pone.0158340openalex-snapshot
Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing
inferredcites →https://doi.org/10.1371/journal.pone.0169774openalex-snapshot
Examining Sources of Error in PCR by Single-Molecule Sequencing
inferredcites →https://doi.org/10.1371/journal.pone.0178169openalex-snapshot
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline
inferredcites →https://doi.org/10.5860/choice.43-1300openalex-snapshot
Gray's anatomy: the anatomical basis of clinical practice

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1038/s41586-020-2832-5openalex-snapshot
Evidence for 28 genetic disorders discovered by combining healthcare and research data
inferred← citeshttps://doi.org/10.1101/2024.08.14.607923openalex-snapshot
Mutations in ErbB2 accumulating in the male germline measured by error-corrected sequencing
inferred← citeshttps://doi.org/10.1111/cen.14381openalex-snapshot
NR5A1 c.991‐1G > C splice‐site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance
inferred← citeshttps://doi.org/10.3410/f.738833309.793579409openalex-snapshot
Faculty Opinions recommendation of Evidence for 28 genetic disorders discovered by combining healthcare and research data.
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