A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

Autor: Julian C. Lui, Adalbert Raimann, Hironori Hojo, Lijin Dong, Paul Roschger, Bijal Kikani, Uwe Wintergerst, Nadja Fratzl-Zelman, Youn Hee Jee, Gabriele Haeusler, Jeffrey Baron
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-022-28318-4
Popis: SP7 is a transcription factor required for osteoblast differentiation and bone formation. A neomorphic mutation in SP7 was found to alter DNA binding specificity, causing a complex skeletal disorder in both mice and humans.
Databáze: Directory of Open Access Journals