Ask about this productRelated genes to: RWDD2A antibody
- Gene:
- RWDD2A NIH gene
- Name:
- RWD domain containing 2A
- Previous symbol:
- RWDD2
- Synonyms:
- MGC13523, dJ747H23.2
- Chromosome:
- 6q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-11
- Date modifiied:
- 2016-10-05
Related products to: RWDD2A antibody
Related articles to: RWDD2A antibody
- The process of spermatogenesis-when germ cells differentiate into sperm-is tightly regulated, and misregulation in gene expression is likely to be involved in the physiopathology of male infertility. The testis is one of the most transcriptionally rich tissues; nevertheless, the specific gene expression changes occurring during spermatogenesis are not fully understood. To better understand gene expression during spermatogenesis, we generated germ cell-specific whole transcriptome profiles by systematically comparing testicular transcriptomes from tissues in which spermatogenesis is arrested at successive steps of germ cell differentiation. In these comparisons, we found thousands of differentially expressed genes between successive germ cell types of infertility patients. We demonstrate our analyses' potential to identify novel highly germ cell-specific markers (TSPY4 and LUZP4 for spermatogonia; HMGB4 for round spermatids) and identified putatively misregulated genes in male infertility (, , , ). Apart from these, we found thousands of genes showing germ cell-specific isoforms (including , , , ). Our approach and dataset can help elucidate genetic and transcriptional causes for male infertility. - Source: PubMed
Publication date: 2022/11/29
Siebert-Kuss Lara MKrenz HenrikeTekath TobiasWöste MariusDi Persio SaraTerwort NicoleWyrwoll Margot JCremers Jann-FrederikWistuba JoachimDugas MartinKliesch SabineSchlatt StefanTüttelmann FrankGromoll JörgNeuhaus NinaLaurentino Sandra - Autism spectrum disorder (ASD) is a complex developmental disorder with strong genetic components involved. Recent studies have demonstrated the importance of non-coding regulatory variants for complex diseases. To explore the roles of chromosomal enhancer regions in the pathogenesis of ASD, we conducted an integrative analysis of genome-wide association study (GWAS) and brain region related enhancer-gene networks for ASD. The GWAS data of ASD were driven from a published study, involving 7,387 ASD cases and 8,567 controls. The enhancer-gene networks of eight brain regions were used here. The GWAS of ASD was first merged respectively with the enhancer datasets of eight brain regions. Pathway enrichment analysis was then performed to detect ASD associated pathways based on the enhancer-related single nucleotide polymorphism (SNPs) of each brain region. We detected multiple genes with brain region specific or common association signals, such as PGM3 (P value = 1.93 × 10 ) and RWDD2A (P value = 1.93 × 10 ) for hippocampus middle, and ENPP4 (all P values <0.05), and ENPP5 (all P values <0.05) for seven brain regions. By comparing the pathway enrichment analysis results of various brain regions, several cross brain regions pathways were detected for ASD, such as REACTOME_POTASSIUM_CHANNELS (all P values <0.05) for six brain regions and KEGG_CELL_ADHESION_MOLECULES_CAMS (all P values <0.05) for seven brain regions. In addition, several pathways were also identified for specific brain regions, such as REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING (P value = 4.00 × 10 ) for angular gyrus, REACTOME_SIGNALING_BY_CONSTITUTIVELY_ACTIVE_EGFR (P value = 2.22 × 10 ) for anterior caudate, and KEGG_PRION_DISEASES (P value = 1.00 × 10 ) for germinal matrix. Our results provide novel clues for understanding the genetic basis of ASD. Autism Research 2019, 12: 26-32. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ASD is a complex developmental disorder with strong genetic components, but the pathogenesis of ASD is still unclear. Using the latest GWAS data and enhancer map, we explored the brain region related biological pathways associated with ASD. Our results provide novel clues for revealing the functional relevance of enhancer variants with ASD and understanding the genetic basis of ASD. - Source: PubMed
Publication date: 2018/08/29
Zhang LuLiu LiWen YanMa MeiCheng ShiqiangYang JianLi PingCheng BolunDu YananLiang XiaoZhao YanDing MiaoGuo XiongZhang Feng - Alzheimer's disease (AD) is the most common form of dementia in older adults that damages the brain and results in impaired memory, thinking and behaviour. The identification of differentially expressed genes and related pathways among affected brain regions can provide more information on the mechanisms of AD. In the past decade, several studies have reported many genes that are associated with AD. This wealth of information has become difficult to follow and interpret as most of the results are conflicting. In that case, it is worth doing an integrated study of multiple datasets that helps to increase the total number of samples and the statistical power in detecting biomarkers. In this study, we present an integrated analysis of five different brain region datasets and introduce new genes that warrant further investigation. - Source: PubMed
Publication date: 2016/04/06
Puthiyedth NishaRiveros CarlosBerretta ReginaMoscato Pablo