TY - JOUR
T1 - The role of WD40 repeat-containing proteins in endocrine (dys)function
AU - Hu, Yalan
AU - Bruinstroop, Eveline
AU - Hollenberg, Anthony N.
AU - Fliers, Eric
AU - Boelen, Anita
N1 - Funding Information: This work was supported by a grant (YH) from the Chinese Scholarship Council (CSC) (NO. 201907720056). Publisher Copyright: © 2023 the author(s) Published by Bioscientifica Ltd. Printed in Great Britain.
PY - 2023/7/1
Y1 - 2023/7/1
N2 - WD40 repeat-containing proteins play a key role in many cellular functions including signal transduction, protein degradation, and apoptosis. The WD40 domain is highly conserved, and its typical structure is a β-propeller consisting of 4–8 blades which probably serves as a scaffold for protein–protein interaction. Some WD40 repeat-containing proteins form part of the corepressor complex of nuclear hormone receptors, a family of ligand-dependent transcription factors that play a central role in the regulation of gene transcription. This explains their involvement in endocrine physiology and pathology. In the present review, we first touch upon the structure of WD40 repeat-containing proteins. Next, we describe our current understanding of the role of WD40 domain-containing proteins in nuclear receptor signaling, e.g., as corepressor or coactivator. In the final part of this review, we focus on WD40 domain-containing proteins that are associated with endocrine pathologies. These pathologies vary from isolated dysfunction of one endocrine axis, e.g., congenital isolated central hypothyroidism, to more complex congenital syndromes comprising endocrine phenotypes, such as the Triple-A syndrome.
AB - WD40 repeat-containing proteins play a key role in many cellular functions including signal transduction, protein degradation, and apoptosis. The WD40 domain is highly conserved, and its typical structure is a β-propeller consisting of 4–8 blades which probably serves as a scaffold for protein–protein interaction. Some WD40 repeat-containing proteins form part of the corepressor complex of nuclear hormone receptors, a family of ligand-dependent transcription factors that play a central role in the regulation of gene transcription. This explains their involvement in endocrine physiology and pathology. In the present review, we first touch upon the structure of WD40 repeat-containing proteins. Next, we describe our current understanding of the role of WD40 domain-containing proteins in nuclear receptor signaling, e.g., as corepressor or coactivator. In the final part of this review, we focus on WD40 domain-containing proteins that are associated with endocrine pathologies. These pathologies vary from isolated dysfunction of one endocrine axis, e.g., congenital isolated central hypothyroidism, to more complex congenital syndromes comprising endocrine phenotypes, such as the Triple-A syndrome.
KW - TBL1X
KW - TBL1XR1
KW - WD40 repeat-containing proteins
KW - coregulators
UR - http://www.scopus.com/inward/record.url?scp=85163576995&partnerID=8YFLogxK
U2 - https://doi.org/10.1530/JME-22-0217
DO - https://doi.org/10.1530/JME-22-0217
M3 - Review article
C2 - 37256579
SN - 0952-5041
VL - 71
JO - Journal of molecular endocrinology
JF - Journal of molecular endocrinology
IS - 1
M1 - e220217
ER -