Author(s): Díaz-Muñoz C; Bozzarelli I; Lopera-Maya EA; Belbasis L; Lo Faro V; Camargo Tavares L; Heredia-Fernández F; Di Lorenzo B; Sinha T; Esteban Blanco C; Favé MJ; Awadalla P; Walters RG; Bonfiglio F; Zhernakova A; Sanna S; D' Amato M;

Background: Genetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders. Objective: To identify genes and mechanisms involved in gut motility, providing a foundation for cli ...

Article GUID: 41558814

Author(s): Sandkuhler SE; Youngs KS; Gottipalli O; Owlett LD; Bandora MB; Naaz A; Kim E; Wang L; Wojtovich A; Gupta V; Sacher M; Mackenzie SJ;

Mutations in the TANGO2 gene are associated with a severe neurometabolic disorder in humans, often presenting with life-threatening metabolic crisis. However, the function of TANGO2 protein remains unknown. It has recently been proposed that TANGO2 transports heme within and between cells, from a ...

Article GUID: 41504601

Author(s): Algallal HE; Laplante I; Casale D; Najafipashaki S; Pomerleau A; Paquette T; Samaha AN;

Rationale: Cocaine addiction is marked by high relapse rates, often triggered by drug-associated cues in the environment. These can be conditioned stimuli (CSs), which occur after drug intake and signal drug delivery, and discriminative stimuli (DSs), which signal that seeking responses will produce drug, before any such responses have been initiated (i.e ...

Article GUID: 41372546

Author(s): Usypchuk AA; Maes EJP; Lozzi M; Avramidis DK; Schoenbaum G; Esber GR; Gardner MPH; Iordanova MD;

The discovery that midbrain dopamine (DA) transients can be mapped onto reward prediction errors (RPEs), the critical signal that drives learning, is a landmark in neuroscience. Causal support for the RPE hypothesis comes from studies showing that stimulating DA neurons can drive learning under c ...

Article GUID: 40738112

Author(s): Dandage R; Papkov M; Greco BM; Pereira V; Fishman D; Friesen H; Wang K; Styles EB; Kraus O; Grys B; Zapata G; Lefebvre F; Bourque G; Boone C; Andrews BJ; Parts L; Kuzmin E;

Gene duplication is common across the Tree of Life and contributes to genomic robustness. In this study, we examined changes in the subcellular localization and abundance of proteins in response to the deletion of their paralogs originating from the whole-genome duplication event, which is a larg ...

Article GUID: 40585364

Author(s): Bögershausen N; Cavdarli B; Nagai T; Milev MP; Wolff A; Mehranfar M; Schmidt J; Choudhary D; Gutiérrez-Gutiérrez Ó; Cyganek L; Saint-Dic D; Zibat A; Köhrer K; Wollenweber TE; Wieczorek D; Altmüller J; Borodina T; Kaçar D; Haliloglu G; Li ...

As a major component of intracellular trafficking, the coat protein complex II (COPII) is indispensable for cellular function during embryonic development and throughout life. The four SEC24 proteins (A-D) are essential COPII components involved in cargo selection and packaging. A human disorder ...

Article GUID: 40131364

Author(s): Bouchard R; Babin C; Normandeau E; Xuereb A; Boulanger F; Coxon A; Diamond S; Fireman R; Lameboy J; Louttit N; Natawapineskum G; Okimaw D; Torio D; Varty S; Moore JS; Fraser D; Bernatchez L;

Dispersal is a highly variable trait influenced by life history and ecological factors, affecting gene flow when dispersers successfully reproduce. Anadromous salmonids, with their diverse migratory strategies and ecological traits, serve as an ideal model for studying dispersal evolution, showca ...

Article GUID: 40108992

Author(s): Ruzzante DE; McCracken GR; Fraser DJ; MacMillan J; Buhariwalla C; Flemming JM;

Although efforts to estimate effective population size, census size and their ratio in wild populations are expanding, few empirical studies investigate interannual changes in these parameters. Hence, we do not know how repeatable or representative many estimates may be. Answering this question requires studies of long-term population dynamics. Here we to ...

Article GUID: 39582254

Author(s): Rezaei M; Liang M; Yalcin Z; Martin JH; Kazemi P; Bareke E; Ge ZJ; Fardaei M; Benadiva C; Hemida R; Hassan A; Maher GJ; Abdalla E; Buckett W; Bolze PA; Sandhu I; Duman O; Agrawal S; Qian J; Vallian Broojeni J; Bhati L; Miron P; Allias F; ...

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients ...

Article GUID: 39545410

Author(s): Daniel A; Savary P; Foltête JC; Vuidel G; Faivre B; Garnier S; Khimoun A;

Modelling population connectivity is central to biodiversity conservation and often relies on resistance surfaces reflecting multi-generational gene flow. ResistanceGA (RGA) is a common optimization framework for parameterizing these surfaces by maximizing the fit between genetic distances and cost distances using maximum likelihood population effect mode ...

Article GUID: 39417711

Author(s): Clarke SH; Lawrence ER; Matte JM; Gallagher BK; Salisbury SJ; Michaelides SN; Koumrouyan R; Ruzzante DE; Grant JWA; Fraser DJ;

Effective population size (Ne) is a particularly useful metric for conservation as it affects genetic drift, inbreeding and adaptive potential within populations. Current guidelines recommend a minimum Ne of 50 and 500 to avoid short-term inbreeding and to preserve long-term adaptive potential re ...

Article GUID: 38613250