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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Authors :
Bryant, Laura
Li, Dong
Cox, Samuel G.
Marchione, Dylan
Joiner, Evan F.
Wilson, Khadija
Janssen, Kevin
Lee, Pearl
March, Michael E.
Nair, Divya
Sherr, Elliott
Fregeau, Brieana
Wierenga, Klaas J.
Wadley, Alexandrea
Mancini, Grazia M. S.
Powell-Hamilton, Nina
van de Kamp, Jiddeke
Grebe, Theresa
Dean, John
Ross, Alison
Source :
Science Advances. 12/2/2020, Vol. 6 Issue 49, p1-11. 11p.
Publication Year :
2020

Abstract

The article focuses on a study which analyzed patients having de novo germline mutations in histone 3 family 3A or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Disruptions in interactions with DNA, other histones and histone chaperone proteins were exhibited by molecular modeling of all variants. Data shows that the germline mutations mechanism are unique from cancer-related somatic histone mutations but may merge on control of cell proliferation.

Details

Language :
English
ISSN :
23752548
Volume :
6
Issue :
49
Database :
Academic Search Index
Journal :
Science Advances
Publication Type :
Academic Journal
Accession number :
147492388
Full Text :
https://doi.org/10.1126/sciadv.abc9207