The background puzzle: how identical mutations in the same gene lead to different disease symptoms

Genetic analysis of intestinal polyp development in Collaborative Cross mice carrying the Apc Min/+ mutation

(2016) Alexandra Dorman et al.   BMC GENETICS

Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”

(2016) Lia Crotti et al.   Circulation-Cardiovascular Genetics

Genetic ablation of lymphocytes and cytokine signaling in nonobese diabetic mice prevents diet-induced obesity and insulin resistance

(2016) Randall H. Friedline et al.   FASEB JOURNAL

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

(2016) Kollu N. Rao et al.   HUMAN MOLECULAR GENETICS

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Genetic Background Limits Generalizability of Genotype-Phenotype Relationships

(2016) Laura J. Sittig et al.   NEURON

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

(2016) Sanjeev Rajakulendran et al.   PLoS One

The Power of Natural Variation for Model Organism Biology

(2016) Audrey P. Gasch et al.   TRENDS IN GENETICS

Diverse genetic architectures lead to the same cryptic phenotype in a yeast cross

(2016) Matthew B. Taylor et al.   Nature Communications

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

(2016) Fergus J. Couch et al.   Nature Communications

Modifiers of the Genotype–Phenotype Map: Hsp90 and Beyond

(2016) Rachel Schell et al.   PLOS BIOLOGY

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

(2016) Nicole A. Hawkins et al.   PLoS Genetics

Response by Crotti et al to Letter Regarding Article, “Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3′ Untranslated Region of KCNQ1?”

(2016) Lia Crotti et al.   Circulation-Cardiovascular Genetics

A suppressor locus for MODY3-diabetes

(2016) Miguel A. Garcia-Gonzalez et al.   Scientific Reports

Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes

(2015) Victoria Vu et al.   CELL

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation inDrosophila

(2015) Clement Y. Chow et al.   HUMAN MOLECULAR GENETICS

Effect of genetic background on the dystrophic phenotype inmdxmice

(2015) William D. Coley et al.   HUMAN MOLECULAR GENETICS

The role of functional data in interpreting the effects of genetic variation

(2015) David L. Young et al.   MOLECULAR BIOLOGY OF THE CELL

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

(2015) Karoline B Kuchenbaecker et al.   NATURE GENETICS

Bringing genetic background into focus

(2015) Clement Y. Chow   NATURE REVIEWS GENETICS

Protective alleles and modifier variants in human health and disease

(2015) Andrew R. Harper et al.   NATURE REVIEWS GENETICS

Systemic Regulation of RAS/MAPK Signaling by the Serotonin Metabolite 5-HIAA

(2015) Tobias Schmid et al.   PLoS Genetics

Transcriptional Derepression Uncovers Cryptic Higher-Order Genetic Interactions

(2015) Matthew B. Taylor et al.   PLoS Genetics

Wild worm embryogenesis harbors ubiquitous polygenic modifier variation

(2015) Annalise B Paaby et al.   eLife

Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis

(2014) Christopher H. Chandler et al.   GENETICS

Deep mutational scanning: a new style of protein science

(2014) Douglas M Fowler et al.   NATURE METHODS

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

(2014) Xiaolin Zhu et al.   NATURE NEUROSCIENCE

Genetic variants of Adam17 differentially regulate TGF  signaling to modify vascular pathology in mice and humans

(2014) K. Kawasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A simulation study of gene-by-environment interactions in GWAS implies ample hidden effects

(2014) Urko M. Marigorta et al.   Frontiers in Genetics

The role of lipid-related genes, aging-related processes, and environment in healthspan

(2013) Alexander M. Kulminski et al.   AGING CELL

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

(2013) Elin Grundberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Natural genetic variation determines susceptibility to aggregation or toxicity in a C. elegans model for polyglutamine disease

(2013) Tali Gidalevitz et al.   BMC BIOLOGY

Genetic background and tumour susceptibility in mouse models

(2013) J Puccini et al.   CELL DEATH AND DIFFERENTIATION

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution

(2013) Christopher H. Chandler et al.   TRENDS IN GENETICS

Genetic Background and GxE Interactions Modulate the Penetrance of a Naturally Occurring Wing Mutation in Drosophila melanogaster

(2013) Joseph Lachance et al.   G3-Genes Genomes Genetics

The Conditional Nature of Genetic Interactions: The Consequences of Wild-Type Backgrounds on Mutational Interactions in a Genome-Wide Modifier Screen

(2013) Sudarshan Chari et al.   PLoS Genetics

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

(2012) Vivienne C. M. Neeve et al.   BRAIN

Monozygotic twins discordant for constitutiveBRCA1promoter methylation, childhood cancer and secondary cancer

(2012) Danuta Galetzka et al.   Epigenetics

Beyond genotype to phenotype: why the phenotype of an individual cannot always be predicted from their genome sequence and the environment that they experience

(2012) Alejandro Burga et al.   FEBS Journal

Modifier Genes and the Plasticity of Genetic Networks in Mice

(2012) Bruce A. Hamilton et al.   PLoS Genetics

Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

(2011) Ahmad S. Amin et al.   EUROPEAN HEART JOURNAL

Predicting mutation outcome from early stochastic variation in genetic interaction partners

(2011) Alejandro Burga et al.   NATURE

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

(2011) Fred A Wright et al.   NATURE GENETICS

The dangers lurking in the genetic background

(2011) Darren J. Burgess   NATURE REVIEWS GENETICS

Fitness Trade-Offs and Environmentally Induced Mutation Buffering in Isogenic C. elegans

(2011) M. O. Casanueva et al.   SCIENCE

Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins

(2011) H Sugawara et al.   Translational Psychiatry

Cryptic intraspecific variation in sex determination in Caenorhabditis elegans revealed by mutations

(2010) C H Chandler   HEREDITY

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

The Genetic Landscape of a Cell

(2010) M. Costanzo et al.   SCIENCE

Genomic Consequences of Background Effects on scalloped Mutant Expressivity in the Wing of Drosophila melanogaster

(2008) I. Dworkin et al.   GENETICS