Article
Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype.
Nature communications - 16 Jul 2020
Thornton Nicole, Karamatic Crew Vanja, Tilley Louise, Green Carole A, Tay Chwen Ling, Griffiths Rebecca E, Singleton Belinda K, Spring Frances, Walser Piers, Alattar Abdul Ghani, Jones Benjamin, Laundy Rosalind, Storry Jill R, Möller Mattias, Wall Lorna, Charlewood Richard, Westhoff Connie M, Lomas-Francis Christine, Yahalom Vered, Feick Ute, Seltsam Axel, Mayer Beate, Olsson Martin L, Anstee David J
Abstract excerpt
The clinically important MAM blood group antigen is present on haematopoietic cells of all humans except rare MAM-negative individuals. Its molecular basis is unknown. By whole-exome sequencing we identify EMP3, encoding epithelial membrane protein 3 (EMP3), as a candidate gene, then demonstrate inactivating mutations in ten known MAM-negative individuals. We show that EMP3, a purported tumour suppressor in...
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