Endocrinol Metab.  2020 Sep;35(3):494-506. 10.3803/EnM.2020.302.

WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System

• Kim Y
• Kim SH

• KMID: 2507998
• DOI: http://doi.org/10.3803/EnM.2020.302

Abstract

WD40-repeat (WDR)-containing proteins constitute an evolutionarily conserved large protein family with a broad range of biological functions. In human proteome, WDR makes up one of the most abundant protein-protein interaction domains. Members of the WDR protein family play important roles in nearly all major cellular signalling pathways. Mutations of WDR proteins have been associated with various human pathologies including neurological disorders, cancer, obesity, ciliopathies and endocrine disorders. This review provides an updated overview of the biological functions of WDR proteins and their mutations found in congenital disorders. We also highlight the significant role of WDR proteins in ciliopathies and endocrine disorders. The new insights may help develop therapeutic approaches targeting WDR motifs.

Keyword

WDR proteins; Ciliopathies; Congenital, hereditary, and neonatal diseases and abnormalities; Neuroendocrine; Kallmann syndrome

Figure

• 

  Fig. 1. A chart indicating the relevant prevalence of human diseases associated with WD40-repeat (WDR) proteins. The data are based on the entries in Online Mendelian Inheritance in Man (OMIM). Total 79 out of 360 WDR proteins have been linked with disease categories as indicated. The ‘others’ category includes multi-organ defects, liver failure, cardiovascular defects and embryonic lethality. The full list of WDR proteins assessed are included in Supplementary Table S1.

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