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#genetics terms

4 public questions tagged with this topic.

Epistasis is defined as

Epistasis represents inter-locus interaction where genotype at one locus masks or modifies phenotypic expression of genotype at second non-allelic locus. Underlying mechanism often involves genes encoding sequential enzymes in same biosynthetic pathway where upstream mutation blocks substrate production, preventing downstream gene phenotype regardless of its genotype, or regulatory factor suppresses transcription of target. Outcome changes dihybrid phenotypic expectation from 9:3:3:1 to modified ratios like 12:3:1 or 9:3:4. Concept distinct from dominance which is intra-locus allele interactio

Ref: Bateson, 1909, Term Epistasis; Griffiths et al., Chapter 6: Mechanisms of Epistatic Masking

Penetrance refers to

Penetrance quantifies proportion of individuals carrying particular disease-associated genotype who actually manifest expected phenotype under given environmental conditions. Complete penetrance indicates 100% of carriers show trait; incomplete penetrance reflects less than 100% expression due to modifier genes, age-dependent onset, stochastic developmental thresholds, environmental suppression, or epigenetic effects. Pedigree analysis employs penetrance estimates to calculate recurrence risks, explaining why autosomal dominant disorders may appear to skip generations despite genotype transmis

Ref: Pierce, Genetics: A Conceptual Approach, 7th ed., Chapter 6: Penetrance Definition and Clinical Relevance

Phenotypically similar traits due to environmental factors are called

Phenocopy describes environmentally induced phenotype that mimics genetically determined trait without change in genotype. Exposure to teratogenic drugs, temperature shift, nutritional deficiency, or chemical during critical developmental window can alter morphogenetic pathway producing trait similar to mutant. Resulting individuals are genetically wild type and offspring revert to normal when environment normalized, demonstrating non-heritability. Distinguishing phenocopies from true genetic mutants and from genocopies where different genotypes produce similar phenotype through genetic hetero

Ref: NCBI Bookshelf, Human Genetics: Environmental Effects, Phenocopy vs Genocopy Concept