KANSL1

Summary

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
Species: human

Top Publications

  1. doi Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Roma, Italy
    J Med Genet 52:804-14. 2015
  2. pmc KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
    María 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
  3. pmc An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis
    Sylvain 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
  4. pmc Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
    Vladimir Vacic
    Department of Computer Science, Columbia University, New York, NY, USA
    Hum Mol Genet 23:4693-702. 2014
  5. pmc Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex
    Jorge Dias
    Grenoble Outstation, European Molecular Biology Laboratory EMBL, 38042 Grenoble, France
    Genes Dev 28:929-42. 2014
  6. pmc Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
    Imre Noth
    Section of Pulmonary and Critical Care Medicine, University of Chicago, Chicago, IL, USA Electronic address
    Lancet Respir Med 1:309-17. 2013
  7. pmc Histone demethylase JMJD2B coordinates H3K4/H3K9 methylation and promotes hormonally responsive breast carcinogenesis
    Lei 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
  8. doi Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
  9. doi Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 44:639-41. 2012
  10. pmc Common variants at 6q22 and 17q21 are associated with intracranial volume
    M Arfan Ikram
    Department of Epidemiology, Erasmus Medical Center University Medical Center, Rotterdam, The Netherlands
    Nat Genet 44:539-44. 2012

Scientific Experts

  • Imre Noth
  • M Arfan Ikram
  • Marcella Zollino
  • Xiangzhi Li
  • Asifa Akhtar
  • Jan Kadlec
  • María Moreno-Igoa
  • Sylvain Meunier
  • Nhuong Van Nguyen
  • Vladimir Vacic
  • Jorge Dias
  • Stephen Cusack
  • David A Koolen
  • Lei Shi
  • Yong Cai
  • Callie Ann Sprunger Corsa
  • Yali Dou
  • Lipeng Wu
  • Javier Simon-Sanchez
  • J E Tobin
  • S Rea
  • Edwin R Smith
  • Leonor Avila
  • Beatriz Nieva-Echebarria
  • Amaya Bengoa-Alonso
  • María Antonia Ramos-Arroyo
  • Carlos Romero-Ibarra
  • Blanca Hernández-Charro
  • Maria Shvedunova
  • Aranzazu Pérez-Juana-del-Casal
  • Isabelle Vernos
  • Lorraine N Clark
  • Anat Mirelman
  • Robert J Desnick
  • Mali Gana-Weisz
  • Alexander Gusev
  • Harry Ostrer
  • Merav Kedmi
  • Hakon Hakonarson
  • Xinmin Liu
  • Laurie J Ozelius
  • Gil Atzmon
  • Saurav Guha
  • Nir Barzilai
  • Janine Brettschneider
  • Aline Gaub
  • Karen Marder
  • Deborah Raymond
  • Rachel Saunders-Pullman
  • Plamen Georgiev
  • Edward R Burns
  • Helen Mejia-Santana
  • Aviv Bergman
  • Ariel Darvasi
  • Nir Giladi
  • Tanya Gurevich
  • Anat Bar-Shira
  • Eimear E Kenny
  • Susan B Bressman
  • Avi Orr-Urtreger
  • Todd Lencz
  • Itsik Pe'er
  • Inga Peter
  • Helger G Yntema
  • Ernie M H F Bongers
  • Petra de Vries
  • Jeanne Amiel
  • Valerie Malan
  • Han G Brunner
  • Frances V Elmslie
  • Hans Scheffer
  • P Poorkaj
  • Eugene T P Verwiel
  • Ton Feuth
  • Sarah Martens
  • Lisenka E L M Vissers
  • Anne Chun Hui Tsai
  • Willy M Nillesen
  • Jamie M Kramer
  • Arjan P M de Brouwer
  • Sau Wai Cheung
  • Joris A Veltman
  • Heather L Moore-Barton
  • Kornelia Neveling
  • Bert B A de Vries
  • Annick Toutain
  • Christian Gilissen
  • Annette Schenck
  • Zhi Yao
  • Jing Liang

Detail Information

Publications20

  1. doi Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Roma, Italy
    J Med Genet 52:804-14. 2015
    The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene...
  2. pmc KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
    María 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...
  3. pmc An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis
    Sylvain 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...
  4. pmc Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
    Vladimir 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. ..
  5. pmc Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex
    Jorge 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...
  6. pmc Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
    Imre 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...
  7. pmc Histone demethylase JMJD2B coordinates H3K4/H3K9 methylation and promotes hormonally responsive breast carcinogenesis
    Lei 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
    ....
  8. doi Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella 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...
  9. doi Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Nat Genet 44:639-41. 2012
    We 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...
  10. pmc Common variants at 6q22 and 17q21 are associated with intracranial volume
    M 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...
  11. doi Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1
    Jan 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 ..
  12. ncbi A genomic sequence analysis of the mouse and human microtubule-associated protein tau
    P 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.
  13. pmc MOF and H4 K16 acetylation play important roles in DNA damage repair by modulating recruitment of DNA damage repair protein Mdc1
    Xiangzhi 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...
  14. pmc Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex
    Yong 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...
  15. pmc Genome-wide association study reveals genetic risk underlying Parkinson's disease
    Javier 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...
  16. pmc Two mammalian MOF complexes regulate transcription activation by distinct mechanisms
    Xiangzhi 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, ..
  17. pmc Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study
    J 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.
  18. ncbi Males absent on the first (MOF): from flies to humans
    S 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...
  19. pmc A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16
    Edwin 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...