Additional file 1: of Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population

Supplementary Materials and Methods, Table S1, Table S2, Table S3, Table S4, Table S5, Table S6, and Table S7. Details of genotyping, luciferase assay, and electrophoretic mobility-shift assay are described as text. Supplementary tables include primers and probes used in this study (Table S1), description of social traits for ASD probands (Table S2), additional results of family-based association of polymorphisms in AVPR1A with single quantitative trait by additive model (Table S3), FBAT results with multi-trait such as SCQ, ASDS, SRS, K-CBCL, and VABS (Table S4), statistical analysis of the social behavior scores in subjects with ASD with genotypes for rs10877969 and rs7294636 (Table S5), genotype and allele frequency of rs10877969 in dbSNP b126 chr12:61,833,506..61833506 of various population (Table S6), and comparison of previous association studies for AVPR1A polymorphisms in ASD (Table S7).(DOCX 62 kb

Blood transcriptome comparison between sexes and their function in 4-week Rhode Island red chickens

Sex is a major biological factor in the development and physiology of a sexual reproductive organism, and its role in the growing process is needed to be investigated in various species. We compare blood transcriptome between 5 males and 5 females in 4-week-old Rhode Island Red chickens and perform functional annotation of differentially expressed genes (DEGs). The results are as follows. 141 and 109 DEGs were located in autosomes and sex chromosomes, respectively. The gene ontology (GO) terms are significantly (p p SMAD2W and the BMP5 were involved in the TGF-beta signaling pathway, and both play an important role in maintaining tissue development. The major DEGs related to the development of neurons and synapses include the up-regulated NRN1, GDF10, SLC1A1, BMP5, NBEA, and NRXN1. Also, 7 DEGs were validated using RT-qPCR with high correlation (r2 = 0.74). In conclusion, the differential expression of blood tissue in the early growing chicken was enriched in TGF-beta signaling and related to the development of neurons and synapses including SMAD2W and BMP5. These results suggest that blood in the early growing stage is differentially affected in tissue development, nervous system, and pigmentation by sex. For future research, experimental characterization of DEGs and a holistic investigation of various tissues and growth stages will be required.</p