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Evolution of Social Insect Polyphenism Facilitated by the Sex Differentiation Cascade.

ABSTRACT: The major transition to eusociality required the evolution of a switch to canalize development into either a reproductive or a helper, the nature of which is currently unknown. Following predictions from the 'theory of facilitated variation', we identify sex differentiation pathways as promising candidates because of their pre-adaptation to regulating development of complex phenotypes. We show that conserved core genes, including the juvenile hormone-sensitive master sex differentiation gene doublesex (dsx) and a krüppel homolog 2 (kr-h2) with putative regulatory function, exhibit both sex and morph-specific expression across life stages in the ant Cardiocondyla obscurior. We hypothesize that genes in the sex differentiation cascade evolved perception of alternative input signals for caste differentiation (i.e. environmental or genetic cues), and that their inherent switch-like and epistatic behavior facilitated signal transfer to downstream targets, thus allowing them to control differential development into morphological castes.

SUBMITTER: Klein A

PROVIDER: S-EPMC4816456 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Evolution of Social Insect Polyphenism Facilitated by the Sex Differentiation Cascade.

Klein Antonia A Schultner Eva E Lowak Helena H Schrader Lukas L Heinze Jürgen J Holman Luke L Oettler Jan J

PLoS genetics 20160331 3

The major transition to eusociality required the evolution of a switch to canalize development into either a reproductive or a helper, the nature of which is currently unknown. Following predictions from the 'theory of facilitated variation', we identify sex differentiation pathways as promising candidates because of their pre-adaptation to regulating development of complex phenotypes. We show that conserved core genes, including the juvenile hormone-sensitive master sex differentiation gene dou ...[more]

PMID: 27031240

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Project description:BackgroundIdentifying mutation-carrying relatives of patients with hereditary cancer syndromes via cascade testing is an underused first step in primary cancer prevention. A feasibility study of facilitated genetic testing of at-risk relatives of patients with a known pathogenic mutation demonstrated encouraging uptake of cascade testing.Primary objectiveOur primary objective is to compare the proportion of genetic testing of identified first-degree relatives of probands with a confirmed BRCA1/2 mutation randomized to a facilitated cascade testing strategy versus standard of care, proband-mediated, information sharing.Study hypothesisWe hypothesize that facilitated cascade testing will drive significantly higher uptake of genetic testing than the standard of care.Trial designThe FaCT (Facilitated Cascade Testing) trial is a prospective multi-institutional randomized study comparing the efficacy of a multicomponent facilitated cascade testing intervention with the standard of care. Patients with a known BRCA1/2 mutation (probands) cared for at participating sites will be randomized. Probands randomized to the standard of care group will be instructed to share a family letter with their first-degree relatives and encourage them to complete genetic testing. First-degree relatives of probands randomized to the intervention arm will receive engagement strategies with a patient navigator, an educational video, and accessible genetic testing services.Major inclusion/exclusion criteriaAdult participants who are first-degree relatives of a patient with a BRCA1/2 mutation and have not had prior genetic testing will be included.Primary endpointAnalyses will assess the proportion of first-degree relatives identified by the proband who complete genetic testing by 6 months in the intervention arm versus the control arm.Sample sizeOne hundred and fifty probands with a BRCA1/2 mutation will be randomized. Each proband is expected to provide an average of 3 relatives, for an expected 450 participants.Estimated dates for completing accrual and presenting resultsJanuary 2024.Trial registrationNCT04613440.

Dataset Information

Evolution of Social Insect Polyphenism Facilitated by the Sex Differentiation Cascade.

Publications

Evolution of Social Insect Polyphenism Facilitated by the Sex Differentiation Cascade.

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