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A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1.
Structure
October 2024
Centre for Medicines Discovery, Nuffield Department of Medicine Research Building, University of Oxford, Roosevelt Drive, Oxford OX3 7FZ, UK. Electronic address:
KCTD family proteins typically assemble into cullin-RING E3 ligases. KCTD1 is an atypical member that functions instead as a transcriptional repressor. Mutations in KCTD1 cause developmental abnormalities and kidney fibrosis in scalp-ear-nipple syndrome.
View Article and Find Full Text PDFStructural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction.
Int J Biol Macromol
October 2024
Institute of Biostructures and Bioimaging, CNR, 80131 Naples, Italy. Electronic address:
Members of the KCTD protein family play key roles in fundamental physio-pathological processes including cancer, neurodevelopmental/neuropsychiatric, and genetic diseases. Here, we report the crystal structure of the KCTD1 P20S mutant, which causes the scalp-ear-nipple syndrome, and molecular dynamics (MD) data on the wild-type protein. Surprisingly, the structure unravels that the N-terminal region, which precedes the BTB domain (preBTB) and bears the disease-associated mutation, adopts a folded polyproline II (PPII) state.
View Article and Find Full Text PDFBTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
J Med Genet
April 2024
Centre for Medicines Discovery, University of Oxford, Oxford, UK
Introduction: encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely related paralogue KCTD1 cause scalp-ear-nipple syndrome.
Methods: Exome sequencing was performed on a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease.
Preoperative computed tomography-guided transscapular sens-cure needle localization for pulmonary nodule located behind the scapula.
J Cardiothorac Surg
July 2023
Department of Radiology, Xuzhou Central Hospital, Xuzhou, China.
Background: Video-assisted thoracoscopic surgery (VATS) is an approach that is commonly used to resect pulmonary nodules (PNs). However, when these PNs are located behind the scapula, a transscapular access approach is generally required. In this study, the safety, efficacy, and feasibility of preoperative computed tomography (CT)-guided Sens-cure needle (SCN) localization was assessed for PNs located behind the scapula.
View Article and Find Full Text PDFand Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
Ophthalmic Genet
February 2023
Department of Medicine (Northern Health and Melbourne Health), University of Melbourne, Melbourne, Australia.
Introduction: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We describe here further clinical associations in the eye and kidney.
Methods: Fifteen affected members from two unrelated families with p.
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