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Product

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

Center:

OK-Center for Learning and Leadership, UCEDD/LEND

Fiscal Year:

2021

Contact Information:

Tara Buck
[email protected]
918-660-3103

Product Description:

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.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Consumers/Families, Professionals, Policymakers, Students

Alternative Format:

To Obtain Copies (URL or Email):

[email protected]

COVID-19 Related Data:

N/A

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