Possible roles for the hominoid-specific DSCR4 gene in human cells

Genes & Genetic Systems

article

Morteza M. Saber¹  Marziyeh Karimiavargani³  Takanori Uzawa³  Nilmini Hettiarachchi¹  Michiaki Hamada⁴  Yoshihiro Ito³  Naruya Saitou¹ 

[1] Population Genetics Laboratory, National Institute of Genetics;Department of Biological Sciences, Graduate School of Science, University of Tokyo;Nano Medical Engineering Laboratory;Department of Electrical Engineering and Bioscience, Faculty of Science and Engineering, Waseda University;Graduate School of Science and Engineering, Saitama University;Computational Bio Big-Data Open Innovation Laboratory (CBBD-OIL), National Institute of Advanced Industrial Science and Technology (AIST);Department of Genetics, School of Life Science, Graduate University for Advanced Studies;Faculty of Medicine, University of the Ryukyus

关键词: Down syndrome ,DSCR4 ,orphan gene ,cell migration ,human evolution;   

DOI  :  10.1266/ggs.20-00012

学科分类：社会科学、人文和艺术（综合）

来源: Genetics Society of Japan

【 摘 要 】

Down syndrome in humans is caused by trisomy of chromosome 21. DSCR4 (Down syndrome critical region 4) is a de novo -originated protein-coding gene present only in human chromosome 21 and its homologous chromosomes in apes. Despite being located in a medically critical genomic region and an abundance of evidence indicating its functionality, the roles of DSCR4 in human cells are unknown. We used a bioinformatic approach to infer the biological importance and cellular roles of this gene. Our analysis indicates that DSCR4 is likely involved in the regulation of interconnected biological pathways related to cell migration, coagulation and the immune system. We also showed that these predicted biological functions are consistent with tissue-specific expression of DSCR4 in migratory immune system leukocyte cells and neural crest cells (NCCs) that shape facial morphology in the human embryo. The immune system and NCCs are known to be affected in Down syndrome individuals, who suffer from DSCR4 misregulation, which further supports our findings. Providing evidence for the critical roles of DSCR4 in human cells, our findings establish the basis for further experimental investigations that will be necessary to confirm the roles of DSCR4 in the etiology of Down syndrome.

【 授权许可】

CC BY