ZSCAN21

Last update 08 May 2025

Basic Info

Synonyms

DKFZp434L134, NY-REN-21, Renal carcinoma antigen NY-REN-21

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Introduction

Strong transcriptional activator (By similarity). Plays an important role in spermatogenesis; essential for the progression of meiotic prophase I in spermatocytes (By similarity).

100 Clinical Results associated with ZSCAN21

100 Translational Medicine associated with ZSCAN21

0 Patents (Medical) associated with ZSCAN21

Literatures (Medical) associated with ZSCAN21

01 Aug 2023·Alzheimer's & Dementia

Obesity impacts the expression of Alzheimer's disease–related genes: The Framingham Heart Study

Article

Author: Levy, Daniel ; Seshadri, Sudha ; Joehanes, Roby ; Satizabal, Claudia L ; Ray, Roshni ; Lin, Honghuang ; Charisis, Sokratis ; Beiser, Alexa S ; Sargurupremraj, Muralidharan

AbstractINTRODUCTIONWe investigated associations of obesity with the expression of Alzheimer's disease (AD)–related genes in a large community‐based cohort.METHODSThe sample consisted of 5619 participants from the Framingham Heart Study. Obesity metrics included body mass index (BMI) and waist‐to‐hip ratio (WHR). Gene expression was measured for a set of 74 AD‐related genes, derived by integrating genome‐wide association study results with functional genomics data.RESULTSObesity metrics were associated with the expression of 21 AD‐related genes. The strongest associations were observed with CLU, CD2AP, KLC3, and FCER1G. Unique associations were noted with TSPAN14, SLC24A4 for BMI, and ZSCAN21, BCKDK for WHR. After adjustment for cardiovascular risk factors, 13 associations remained significant for BMI and 8 for WHR. Dichotomous obesity metrics exhibited unique associations with EPHX2 for BMI, and with TSPAN14 for WHR.DISCUSSIONObesity was associated with AD‐related gene expression; these findings shed light on the molecular pathways linking obesity to AD.

01 Dec 2021·Molecular NeurodegenerationQ1 · MEDICINE

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Q1 · MEDICINE

ArticleOA

Author: Tejera-Parrado, Cristina ; Pietracupa, Sara ; Zholdybayeva, Elena ; Ciullo, Marina ; Karimova, Altynay ; Tolosa, Eduard ; de Munain Arregui, Adolfo López ; Acampora, Dario ; Schreglmann, Sebastian ; Guelfi, Sebastian ; Errazquin, Francisco Perez ; Trabzuni, Daniah ; Reed, Xylena ; Scala, Simona ; Rizzu, Patrizia ; Ruiz-Martínez, Javier ; Vela, Lydia ; Buiza-Rueda, Dolores ; Wood, Nicholas W. ; Cookson, Mark R. ; Simeone, Antonio ; Bubb, Vivien ; Rezola, Elisabet Mondragon ; Zharkynbekova, Nazira ; Chelban, Viorica ; Barrero, Francisco Javier ; Lombardi, Alessia ; Singleton, Andrew B. ; Botía, Juan A. ; Toft, Mathias ; Gialluisi, Alessandro ; Lovering, Ruth ; Martínez-Castrillo, Juan Carlos ; Simón-Sánchez, Javier ; Narendra, Derek ; Méndez-del-Barrio, Carlota ; Gambardella, Stefano ; Clarimón, Jordi ; Koks, Sulev ; Torres, Irene Martínez ; Feliz, Cici ; Reccia, Mafalda Giovanna ; Bernal-Bernal, Inmaculada ; Lubbe, Steven ; Lungu, Codrin ; Dols-Icardo, Oriol ; Craig, David W. ; Corvol, Jean-Christophe ; Muñoz, Esteban ; Aguilar, Miquel ; Tartari, Juan Pablo ; Williams, Nigel ; Blazquez, Marta ; Duarte, Jacinto ; Gibbs, J. Raphael ; Shashkin, Chingiz ; Zharmukhanov, Zharkyn ; Tabernero, Cesar ; Carrión-Claro, Mario ; Schulte, Claudia ; Pagola, Ana Gorostidi ; Noyce, Alastair J. ; Infante, Jon ; Iwaki, Hirotaka ; Lewis, Patrick ; van Hilten, Jacobus J. ; Escamilla-Sevilla, Francisco ; Houlden, Henry ; Finkbeiner, Steven ; Iacoviello, Licia ; Quinn, John ; Marín, Juan ; Danjou, Fabrice ; Kia, Demis A. ; Ryten, Mina ; Sierra, María ; Pihlstrom, Lasse ; Ojo, Oluwadamilola O. ; Escott-Price, Valentina ; Martinez, Maria ; Leonard, Hampton L. ; Adarmes-Gómez, Astrid D. ; Van Keuren-Jensen, Kendall ; Lesage, Suzanne ; Mir, Pablo ; González, Manuel Menéndez ; Nalls, Mike A. ; Ruz, Clara ; Alcalay, Roy N. ; Alvarez, Victoria ; D’Esposito, Maurizio ; Macias, Daniel ; Esposito, Teresa ; Sadykova, Dinara ; Hardy, John ; Kinghorn, Kerri J. ; Bonilla-Toribio, Marta ; Plun-Favreau, Helene ; Garcia, Ciara ; Yarza, Jesús Alberto Bergareche ; Akhmetzhanov, Vadim ; Sharma, Manu ; Rouleau, Guy A. ; Guerreiro, Rita ; Majamaa, Kari ; Modugno, Nicola ; Vargas-González, Laura ; Gan-Or, Ziv ; Aitkulova, Akbota ; Marti, Maria Jose ; Rodriguez, Antonio Sanchez ; Fernández-Santiago, Rubén ; R’Bibo, Lea ; Mínguez, Adolfo ; Periñán-Tocino, Teresa ; Brice, Alexis ; Faghri, Faraz ; Shulman, Joshua M. ; Clarke, Carl ; Mata, Marina ; Brockmann, Kathrin ; Siitonen, Ari ; Vives, Francisco ; Billingsley, Kimberley ; Morris, Huw R. ; Gasser, Thomas ; Fernández, Manel ; Heutink, Peter ; Duran, Raquel ; Ezquerra, Mario ; Rizig, Mie ; Scholz, Sonja W. ; Taba, Pille ; Gómez-Garre, Pilar ; Jimenez-Escrig, Adriano ; Jesús, Silvia ; Zimprich, Alexander ; Mencacci, Niccolo E. ; Cerdan, Debora ; Kaiyrzhanov, Rauan ; Carrillo, Fátima ; Robak, Laurie ; Hassin-Baer, Sharon ; Foltynie, Thomas ; Marinus, Johan ; Valldeoriola, Francesc ; Alvarez, Ignacio ; Bras, Jose ; Boungiorno, María Teresa ; Blauwendraat, Cornelis ; Middlehurst, Ben ; Kulisevsky, Jaime ; Pastor, Pau ; Bandres-Ciga, Sara ; Labrador-Espinosa, Miguel A. ; García-Ruiz, Pedro ; Manzoni, Claudia ; Gonzalez-Aramburu, Isabel ; Compta, Yaroslau ; Hernandez, Dena G. ; Di Giovannantonio, Luca Giovanni ; Morrison, Karen E. ; Suarez-Sanmartin, Esther ; Okubadejo, Njideka U. ; Ruggiero, Daniela ; Diez-Fairen, Monica ; Kaishybayeva, Gulnaz ; Gianfrancesco, Fernando ; Mok, Kin Y. ; Krohn, Lynne ; Heredia, Maria Jose Gomez ; Lopez-Sendon, Jose Luis ; Tan, Manuela ; Pagonabarraga, Javier ; Holmans, Peter ; Nutile, Teresa ; Hoenicka, Janet

AbstractBackgroundParkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD.MethodsThe study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls).ResultsFamily-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD.Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10− 5). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD.Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment.ConclusionsBesides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment.

01 Oct 2021·Advanced ScienceQ1 · MATERIALS SCIENCE

Proteome‐Wide Profiling of Readers for DNA Modification

Q1 · MATERIALS SCIENCE

ArticleOA

Author: Li, Xianju ; Feng, Jinwen ; Gong, Tongqing ; Qin, Jun ; Liu, Mingwei ; Bai, Lin ; Lyu, Jiacheng ; Yang, Guojian ; Wang, Yunzhi ; Qin, Zhaoyu ; Yang, Wenjun ; Ding, Chen ; Li, Jixi ; Li, Zhengyang

AbstractDNA modifications, represented by 5‐methylcytosine (5mC), 5‐hydroxymethylcytosine (5hmC), 5‐formylcytosine (5fC), and 5‐carboxylcytosine (5caC), play important roles in epigenetic regulation of biological processes. The specific recognition of DNA modifications by the transcriptional protein machinery is thought to be a potential mechanism for epigenetic‐driven gene regulation, and many modified DNA‐specific binding proteins have been uncovered. However, the panoramic view of the roles of DNA modification readers at the proteome level remains largely unclear. Here, a recently developed concatenated tandem array of consensus transcription factor (TF) response elements (catTFREs) approach is employed to profile the binding activity of TFs at DNA modifications. Modified DNA‐binding activity is quantified for 1039 TFs, representing 70% of the TFs in the human genome. Additionally, the modified DNA‐binding activity of 600 TFs is monitored during the mouse brain development from the embryo to the adult stages. Readers of these DNA modifications are predicted, and the hierarchical networks between the transcriptional protein machinery and modified DNA are described. It is further demonstrated that ZNF24 and ZSCAN21 are potential readers of 5fC‐modified DNA. This study provides a landscape of TF–DNA modification interactions that can be used to elucidate the epigenetic‐related transcriptional regulation mechanisms under physiological conditions.

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