Journal article

The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome

Shan Shan Li, Zhengdong Qu, Matilda Haas, Ngo Linh, You Jeong Heo, Hyo Jung Kang, Joanne Maria Britto, Hayley Daniella Cullen, Hannah Kate Vanyai, Seong-Seng Tan, Tailoi Chan-Ling, Jenny Margaret Gunnersen, Julian Ik-Tsen Heng



Copy number variations to chromosome 21 (HSA21) cause intellectual disability and Down Syndrome, but our understanding of the HSA21 genetic factors which contribute to fetal brain development remains incomplete. Here, we focussed on the neurodevelopmental functions for EURL (also known as C21ORF91, Refseq Gene ID:54149), a protein-coding gene at the centromeric boundary of the Down Syndrome Critical Region (DSCR) of HSA21. We report that EURL is expressed during human and mouse cerebral cortex development, and we report that alterations to EURL mRNA levels within the human brain underlie Down Syndrome. Our gene perturbation studies in mice demonstrate that disruptions to Eurl impair progenit..

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Awarded by National Health and Medical Research Council of Australia

Awarded by NHMRC

Awarded by Ministry of Health & Welfare, Republic of Korea

Funding Acknowledgements

This work was supported by the Harry Perkins Institute of Medical Research and The University of Western Australia, The Australian Regenerative Medicine Institute, and Monash University. J.I.H is supported by a Career Development Fellowship (ID: 1011505) and project grant (ID: 1028258) from the National Health and Medical Research Council of Australia. J-I.H. thanks Guy Ben-Ary (University of Western Australia) for confocal microscopy support. J.M.G. is supported by NH&MRC project grants (1008787 and 1058672), while T.C-L is supported by NH&MRC fellowship and a project grant (1005730 & 571100). This research was also supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (HI14C2461).