KLF17

Last update 08 May 2025

Basic Info

Synonyms

FLJ40160, KLF17, Krueppel-like factor 17

+ [4]

Introduction

Transcription repressor that binds to the promoter of target genes and prevents their expression. Acts as a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer. Specifically binds the 5'-CACCC-3' sequence in the promoter of ID1, a key metastasis regulator in breast cancer, and repress its expression. May be a germ cell-specific transcription factor that plays important roles in spermatid differentiation and oocyte development (By similarity).

100 Clinical Results associated with KLF17

100 Translational Medicine associated with KLF17

0 Patents (Medical) associated with KLF17

Literatures (Medical) associated with KLF17

01 Jan 2025·Developmental Cell

Initiation and maintenance of the pluripotent epiblast in pre-implantation human development is independent of NODAL signaling

Article

Author: Osnato, Anna ; Odia, Rabi A ; Elder, Kay ; Odia, Rabi A. ; Vasilic, Mina ; Hill, Caroline S. ; Serhal, Paul ; Brumm, A Sophie ; Shaikly, Valerie ; Hill, Caroline S ; Woods, Laura ; Niakan, Kathy K. ; Fallesen, Todd ; Christie, Leila ; Rugg-Gunn, Peter J ; Papathanasiou, Athanasios ; Rugg-Gunn, Peter J. ; Garcia, Patricia ; McMahon, Riley ; Snell, Phil ; Brumm, A. Sophie ; McCarthy, Afshan ; Gerri, Claudia ; Niakan, Kathy K ; Vallier, Ludovic ; Taranissi, Mohamed

The human blastocyst contains the pluripotent epiblast from which human embryonic stem cells (hESCs) can be derived. ACTIVIN/NODAL signaling maintains expression of the transcription factor NANOG and in vitro propagation of hESCs. It is unknown whether this reflects a functional requirement for epiblast development in human embryos. Here, we characterized NODAL signaling activity during pre-implantation human development. We showed that NANOG is an early molecular marker restricted to the nascent human pluripotent epiblast and was initiated prior to the onset of NODAL signaling. We further demonstrated that expression of pluripotency-associated transcription factors NANOG, SOX2, OCT4, and KLF17 were maintained in the epiblast in the absence of NODAL signaling activity. Genome-wide transcriptional analysis showed that NODAL signaling inhibition did not decrease NANOG transcription or impact the wider pluripotency-associated gene regulatory network. These data suggest differences in the signaling requirements regulating pluripotency in the pre-implantation human epiblast compared with existing hESC culture.

01 Jul 2024·Human Pathology

Myoepithelial tumors of soft tissue and bone in children and young adults: A clinicopathologic study of 40 cases occurring in patients ≤ 21 Years of age

Article

Author: Olson, Damon R ; Dehner, Carina A ; Alruwaii, Fatimah I ; Fritchie, Karen J ; Logan, Suzanna J ; Folpe, Andrew L ; Din, Nasir Ud ; Charville, Gregory W ; Blessing, Melissa M

Myoepithelial tumors of the soft tissue and bone occurring in patients 21 years of age and younger are rare, and their clinicopathologic features remain incompletely understood. We studied a well-characterized series of 40 such tumors. Cases were retrieved from our archives for the period 2009-2022 and re-reviewed. Available immunohistochemical and molecular genetic data was collected. Clinical information including available follow-up was obtained. The tumors occurred in 18 males and 22 females, ranging from 3 months to 21 years of age (median 11.5 years), and involved a wide variety of soft tissue (n = 36) and bone (n = 4) locations. Histologically benign myoepithelial tumors tended to occur in adolescents (median age 14.5 years; range 5-21 years), whereas myoepithelial carcinomas occurred in younger patients (median age 8.5 years; range 3 months-20 years). Microscopically, the tumors showed a complex admixture of epithelioid, plasmacytoid and spindled cells in a variably hyalinized, myxoid, chondroid or chondromyxoid background. Small subsets of histologically malignant tumors had rhabdoid or "round cell" features. Immunohistochemistry showed 35/40 (88%) cases to be positive with at least one keratin antibody. The 5 keratin-negative tumors were uniformly positive for S100 protein and/or SOX10 and expressed EMA (4 cases) and/or p63 (3 cases). EMA, SMA and GFAP were positive in 21/25 (84%), 13/21 (62%), and 8/21 (38%) tumors, respectively. SMARCB1 and SMARCA4 expression was retained in 29/31 (94%) and 22/22 (100%) of cases, respectively. FISH for EWSR1 gene rearrangement was positive in 6/18 (33%) tested cases. Two EWSR1-negative tumors were also FUS-negative. NGS identified EWSR1::POU5F1, FUS::KLF17, and BRD4::CITED1 gene fusions in 3 tested cases. Clinical follow-up (22 patients; median 23 months; range 1-119 months) showed 3 patients with local recurrences and 5 with distant metastases (lymph nodes, lung, and brain). Three patients died of disease, 3 were alive with recurrent or unresectable disease, and 16 were disease-free. Adverse clinical outcomes were seen only in patients with malignant tumors. We conclude that myoepithelial neoplasms of soft tissue and bone are over-repesented in patients ≤21 years of age, more often histologically malignant, and potentially lethal. Histologic evaluation appears to reliably predict the behavior of these rare tumors.

01 May 2024·Genetics in Medicine

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Article

Author: Laquerriere, Annie ; Lenaers, Guy ; Procaccio, Vincent ; Mignot, Cyril ; Bonneau, Dominique ; Friocourt, Gaëlle ; Biquard, Florence ; Héron, Bénédicte ; Jamra, Rami Abou ; Colin, Estelle ; Klabunde-Cherwon, Annick ; Van Gassen, Koen ; De Bie, Charlotte ; Lecointre, Maryline ; Ferec, Claude ; Van Bogaert, Patrick ; Guichet, Agnès ; Tessarech, Marine ; Syrbe, Steffen ; Vitobello, Antonio ; Gonzalez, Bruno ; Marguet, Florent ; Dheedene, Annelies ; Zidane-Marinnes, Merzouka ; Marcorelles, Pascale ; Callewaert, Bert ; Díaz, Rodrigo Muñoz ; Keren, Boris ; Khiati, Salim ; Delorme, Benoit ; Bris, Céline ; Le Mao, Morgane ; Wegler, Meret ; Loisel, Didier

PURPOSEInterneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder.METHODSCases with SP9 variants were collected through international data-sharing networks. To address the specific impact of SP9 variants, in silico and in vitro assays were carried out.RESULTSDe novo heterozygous variants in SP9 cause a novel form of interneuronopathy. SP9 missense variants affecting the glutamate 378 amino acid result in severe epileptic encephalopathy because of hypomorphic and neomorphic DNA-binding effects, whereas SP9 loss-of-function variants result in a milder phenotype with epilepsy, developmental delay, and autism spectrum disorder.CONCLUSIONDe novo heterozygous SP9 variants are responsible for a neurodevelopmental disease. Interestingly, variants located in conserved DNA-binding domains of KLF/SP family transcription factors may lead to neomorphic DNA-binding functions resulting in a combination of loss- and gain-of-function effects.

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KLF17

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