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

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

doi:10.1038/s41467-022-28318-4

Nature Communications (Feb 2022)

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

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

Affiliations

Julian C. Lui: Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
Adalbert Raimann: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna
Hironori Hojo: Center for Disease and Integrative Medicine, University of Tokyo
Lijin Dong: Genetic Engineering Core, National Eye Institute, National Institute of Health
Paul Roschger: Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital
Bijal Kikani: Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
Uwe Wintergerst: Department of Pediatrics, Hospital of Braunau
Nadja Fratzl-Zelman: Vienna Bone and Growth Center
Youn Hee Jee: Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health
Gabriele Haeusler: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna
Jeffrey Baron: Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health

DOI: https://doi.org/10.1038/s41467-022-28318-4
Journal volume & issue: Vol. 13, no. 1
pp. 1 – 14

Abstract

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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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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