KANSL1

Summary

Gene Symbol: KANSL1
Description: KAT8 regulatory NSL complex subunit 1
Alias: CENP-36, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1, 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 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Scientific Experts

  • Marcella Zollino
  • M Arfan Ikram
  • Xiangzhi Li
  • David A Koolen
  • Lei Shi
  • Jan Kadlec
  • Yong Cai
  • Lipeng Wu
  • Yali Dou
  • Callie Ann Sprunger Corsa
  • Javier Simon-Sanchez
  • J E Tobin
  • S Rea
  • Edwin R Smith
  • Joris A Veltman
  • Annette Schenck
  • Frances V Elmslie
  • Sarah Martens
  • P Poorkaj
  • Bert B A de Vries
  • Anne Chun Hui Tsai
  • Lisenka E L M Vissers
  • Helger G Yntema
  • Jamie M Kramer
  • Eugene T P Verwiel
  • Valerie Malan
  • Heather L Moore-Barton
  • Petra de Vries
  • Willy M Nillesen
  • Sau Wai Cheung
  • Kornelia Neveling
  • Ernie M H F Bongers
  • Han G Brunner
  • Ton Feuth
  • Jeanne Amiel
  • Christian Gilissen
  • Arjan P M de Brouwer
  • Annick Toutain
  • Hans Scheffer
  • Xia Yi
  • Zhi Yao
  • Xiao Han
  • Jing Liang
  • Qian Li
  • Chenghao Xuan
  • Asifa Akhtar
  • Herbert Holz
  • Yu Zhang
  • Juan Sanchez-Weatherby
  • Luyang Sun
  • Yongfeng Shang
  • Stephen Cusack
  • Michael Lipp
  • Yanyan Li
  • Erinc Hallacli
  • Xiaohan Yang
  • Wenhua Yu
  • Xiaochun Yu
  • Selene K Swanson
  • Patricia W Pan
  • Joan W Conaway
  • Michael P Washburn
  • David Ferguson
  • Seung Hyuk Choi
  • Jinrong Min
  • Michael D Cole
  • Jingji Jin
  • Ronald C Conaway
  • Laurence Florens
  • Arthur Schatzkin
  • Steve Kunkel
  • John A Hardy
  • Bryan J Traynor
  • Michael Steffens
  • Hubert H Fernandez
  • Alison Goate
  • J Raphael Gibbs
  • Xuemei Huang
  • Mark R Cookson
  • Honglei Chen
  • Albert Hollenbeck
  • Michael A Nalls
  • Nick W Wood
  • Sampath Arepalli
  • Michael Bonin
  • Claudia Schulte
  • Daniela Berg
  • Stephen J Chanock
  • Thomas Illig
  • Joel Perlmutter

Detail Information

Publications14

  1. 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...
  2. 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...
  3. 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...
  4. 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
    ....
  5. 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 ..
  6. 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...
  7. 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...
  8. 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...
  9. 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, ..
  10. 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.
  11. 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...
  12. 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...
  13. 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.