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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
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; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klo...     »
Abstract:
Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslation...     »
Zeitschriftentitel:
Sci Adv
Jahr:
2020
Band / Volume:
6
Heft / Issue:
49
Volltext / DOI:
doi:10.1126/sciadv.abc9207
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33268356
Print-ISSN:
2375-2548
TUM Einrichtung:
1310; 617; Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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