著者
Morteza M. Saber Marziyeh Karimiavargani Takanori Uzawa Nilmini Hettiarachchi Michiaki Hamada Yoshihiro Ito Naruya Saitou
出版者
The Genetics Society of Japan
雑誌
Genes & Genetic Systems (ISSN:13417568)
巻号頁・発行日
pp.20-00012, (Released:2021-03-24)
参考文献数
56

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.

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Saitou group has published a wonderful paper entitled " Possible roles for the hominoid-specific DSCR4 gene in human cells” from Genes and Genetic Systems ! https://t.co/G5qcSn1DTQ
【研究成果】新しい記事を公開しました。■斎藤研究室(集団遺伝研究室)「DSCR4 (ダウン症重要領域4) 遺伝子のもつ役割の可能性」 https://t.co/uUbXrntqsO https://t.co/G5qcSn1DTQ https://t.co/AcpuZcpC5D

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