Genomes and Genes
Gene Symbol: KANSL1
Description: KAT8 regulatory NSL complex subunit 1
Alias: CENP-36, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1, KAT8 regulatory NSL complex subunit 1, MLL1/MLL complex subunit KANSL1, MSL1 homolog 1, NSL complex protein NSL1, centromere protein 36, male-specific lethal 1 homolog, non-specific lethal 1 homolog
- Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino
Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Roma, Italy
J Med Genet 52:804-14. 2015The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene...
- KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndromeMaría Moreno-Igoa
Medical Genetics Department, Complejo Hospitalario de Navarra, IdiSNA, Navarra Institute for Health Research, Irunlarrea 4, 31008, Pamplona, Navarra, Spain
BMC Med Genet 16:68. 2015..genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region...
- An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosisSylvain Meunier
1 Cell and Developmental Biology Programme, Centre for Genomic Regulation CRG, Dr Aiguader 88, 08003 Barcelona, Spain 2 Universitat Pompeu Fabra UPF, Dr Aiguader 88, 08003 Barcelona, Spain
Nat Commun 6:7889. 2015..Here we uncover a novel function of the NSL complex members in mitosis. As the cell enters mitosis, KANSL1 and KANSL3 undergo a marked relocalisation from the chromatin to the mitotic spindle...
- Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypesVladimir Vacic
Department of Computer Science, Columbia University, New York, NY, USA
Hum Mol Genet 23:4693-702. 2014..Our results highlight the power of our haplotype association method, particularly useful in studies of founder populations, and reaffirm the benefits of studying complex diseases in Ashkenazi Jewish cohorts. ..
- Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complexJorge Dias
Grenoble Outstation, European Molecular Biology Laboratory EMBL, 38042 Grenoble, France
Genes Dev 28:929-42. 2014..We identified several direct interactions within the complex and show that KANSL1 acts as a scaffold protein interacting with four other subunits, including WDR5, which in turn binds KANSL2...
- Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association studyImre Noth
Section of Pulmonary and Critical Care Medicine, University of Chicago, Chicago, IL, USA Electronic address
Lancet Respir Med 1:309-17. 2013..Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF...
- Histone demethylase JMJD2B coordinates H3K4/H3K9 methylation and promotes hormonally responsive breast carcinogenesisLei Shi
Key Laboratory of Carcinogenesis and Translational Research Ministry of Education, Department of Biochemistry and Molecular Biology, Peking University Health Science Center, Beijing 100191, China
Proc Natl Acad Sci U S A 108:7541-6. 2011....
- Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotypeMarcella Zollino
Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
Nat Genet 44:636-8. 2012..Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31...
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Nat Genet 44:639-41. 2012We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features...
- Common variants at 6q22 and 17q21 are associated with intracranial volumeM Arfan Ikram
Department of Epidemiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands
Nat Genet 44:539-44. 2012..5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size...
- Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1Jan Kadlec
European Molecular Biology Laboratory, Grenoble, France
Nat Struct Mol Biol 18:142-9. 2011..provides insights into the catalytic mechanism of MOF and enables us to show analogous interactions of MOF with NSL1. In Drosophila, selective disruption of Msl1 interactions with Msl3 or Mof severely affects Msl1 targeting to the ..
- A genomic sequence analysis of the mouse and human microtubule-associated protein tauP Poorkaj
Geriatric Research Education Clinical Center 182 B, Veterans Affairs Puget Sound Health Care System, Seattle Division, 1660 S Columbian Way, Seattle, Washington 98108, USA
Mamm Genome 12:700-12. 2001..The 5' and 3' flanking genes for MAPT are the corticotrophin-releasing factor receptor (CRFR) gene and KIAA1267, a gene of unknown function expressed in brain.
- MOF and H4 K16 acetylation play important roles in DNA damage repair by modulating recruitment of DNA damage repair protein Mdc1Xiangzhi Li
Department of Pathology, University of Michigan, Ann Arbor, MI 48109, USA
Mol Cell Biol 30:5335-47. 2010..X. Given the well-characterized H4-H2A trans interactions in regulating higher-order chromatin structure, our study revealed a novel chromatin-based mechanism that regulates the DNA damage repair process...
- Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complexYong Cai
Stowers Institute for Medical Research, Kansas City, Missouri 64110, USA
J Biol Chem 285:4268-72. 2010..Although MSL-associated MOF acetylates nucleosomal histone H4 almost exclusively on lysine 16, NSL-associated MOF exhibits a relaxed specificity and also acetylates nucleosomal histone H4 on lysines 5 and 8...
- Genome-wide association study reveals genetic risk underlying Parkinson's diseaseJavier Simon-Sanchez
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 41:1308-12. 2009..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease...
- Two mammalian MOF complexes regulate transcription activation by distinct mechanismsXiangzhi Li
Department of Pathology, University of Michigan, Ann Arbor, MI 48109, USA
Mol Cell 36:290-301. 2009..activity of MOF is tightly regulated in two different but evolutionarily conserved complexes, MSL and MOF-MSL1v1. Importantly, we demonstrate that while the two MOF complexes have indistinguishable activity on histone H4 K16, ..
- Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD StudyJ E Tobin
Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA
Neurology 71:28-34. 2008..samples from patients with PD and neurologically normal controls were used to evaluate whether the expression of the 3-repeat and 4-repeat isoforms of MAPT, and neighboring genes Saitohin (STH) and KIAA1267, are altered in PD cerebellum.
- Males absent on the first (MOF): from flies to humansS Rea
Gene Expression Programme, European Molecular Biology Laboratory, Heidelberg, Germany
Oncogene 26:5385-94. 2007..These data, highlighting hMOF as an important component of many cellular processes, as well as links between hMOF and cancer will be discussed...
- A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16Edwin R Smith
Department of Biology, Emory University, 1510 Clifton Road NE, Atlanta, GA 30322, USA
Mol Cell Biol 25:9175-88. 2005..of additional complexes, forming associations with host cell factor 1 and a protein distantly related to MSL1 (hMSL1v1). We find two versions of hMSL3 in the hMSL complex that differ by the presence of the chromodomain...