Evaluating the Specificity and Potency of Activators and Inhibitors of the cAMP Sensors PKA, Epac2/Rapgef4, and NCS/Rapgef2 Using Cell-Based Assays for Activation of CREB, p38 MAPK, and ERK
FASEB JOURNAL
Authors: Emery, Andrew C.; Eiden, Maribeth V.; Eiden, Lee E.
Abstract
A Genome-Wide Survey of Transgenerational Genetic Effects in Autism
PLOS ONE
Authors: Tsang, Kathryn M.; Croen, Lisa A.; Torres, Anthony R.; Kharrazi, Martin; Delorenze, Gerald N.; Windham, Gayle C.; Yoshida, Cathleen K.; Zerbo, Ousseny; Weiss, Lauren A.
Abstract
Effects of parental genotype or parent-offspring genetic interaction are well established in model organisms for a variety of traits. However, these transgenerational genetic models are rarely studied in humans. We have utilized an autism case-control study with 735 mother-child pairs to perform genome-wide screening for maternal genetic effects and maternal-offspring genetic interaction. We used simple models of single locus parent-child interaction and identified suggestive results (P<10(-4)) that cannot be explained by main effects, but no genome-wide significant signals. Some of these maternal and maternal-child associations were in or adjacent to autism candidate genes including: PCDH9, FOXP1, GABRB3, NRXN1, RELN, MACROD2, FHIT, RORA, CNTN4, CNTNAP2, FAM135B, LAMA1, NFIA, NLGN4X, RAPGEF4, and SDK1. We attempted validation of potential autism association under maternal-specific models using maternal-paternal comparison in family-based GWAS datasets. Our results suggest that further study of parental genetic effects and parent-child interaction in autism is warranted.