USB1

Summary

Gene Symbol: USB1
Description: U6 snRNA biogenesis 1
Alias: C16orf57, HVSL1, Mpn1, hUsb1, HVSL motif containing 1, U six biogenesis 1, U6 snRNA phosphodiesterase, UPF0406 protein C16orf57, mutated in poikiloderma with neutropenia protein 1
Species: human

Top Publications

  1. pmc Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
    Hum Mol Genet 19:4453-61. 2010
  2. doi Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
    D Concolino
    Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A Pugliese, Catanzaro, Italy
    Am J Med Genet A 152:2588-94. 2010
  3. pmc Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
    Carol Clericuzio
    Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
    Am J Med Genet A 155:337-42. 2011
  4. doi Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA
    Vadim Shchepachev
    Institute of Biochemistry, Eidgenossische Technische Hochschule Zurich, Zurich, CH 8093, Switzerland
    Cell Rep 2:855-65. 2012
  5. pmc Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
    Ludovica Volpi
    Universita degli Studi di Milano, Dipartimento di Biologia e Genetica per le Scienze Mediche, Milan, Italy
    Am J Hum Genet 86:72-6. 2010
  6. doi Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia
    Christine Hilcenko
    MRC Laboratory of Molecular Biology, Cambridge, UK
    Blood 121:1028-38. 2013
  7. pmc C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification
    Seweryn Mroczek
    Department of Biophysics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02 106 Warsaw, Poland
    Genes Dev 26:1911-25. 2012
  8. pmc Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
    Elisa A Colombo
    Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita degli Studi di Milano, Milano, Italy
    Orphanet J Rare Dis 7:7. 2012
  9. doi Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis
    Rattanavalai Chantorn
    Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    Pediatr Dermatol 29:463-72. 2012
  10. doi The Mpn1 RNA exonuclease: cellular functions and implication in disease
    Vadim Shchepachev
    Institute of Biochemistry IBC, Eidgenössische Technische Hochschule Zürich ETHZ, Zurich CH 8093, Switzerland
    FEBS Lett 587:1858-62. 2013

Scientific Experts

  • Juliette Piard
  • Andreas W Arnold
  • Amanda J Walne
  • Daniela Concolino
  • Vadim Shchepachev
  • Ludovica Volpi
  • Christine Hilcenko
  • Claus M Azzalin
  • Seweryn Mroczek
  • Rattanavalai Chantorn
  • Elisa A Colombo
  • Lidia Larizza
  • Carol Clericuzio
  • Adam Shlien
  • Li Jin
  • Alan J Warren
  • Inderjeet Dokal
  • Andrew J Finch
  • Peter Campbell
  • Michael Kirwan
  • Mark J Churcher
  • Frank R Bowler
  • Paul J Simpson
  • Len C Packman
  • Tor Shwayder
  • Spencer K Sullivan
  • Deniz Yucelten
  • J Fernando Bazan
  • Edoardo Missiaglia
  • Joanna Krwawicz
  • Matteo Luciani
  • Krzysztof Ginalski
  • Albert C Yan
  • Andrzej Dziembowski
  • Gloria Negri
  • Anna Teti
  • Harry Wischnewski
  • Ilknur Altunay
  • Jan Kutner
  • Iwo Kucinski
  • Andrea Del Fattore
  • Umram Cetincelik
  • Nursel H Elcioglu
  • Charlotte Soneson
  • Michal Lazniewski
  • Cristina Gervasini
  • Karine Harutyunyan
  • Thomas A Griffin
  • Robert P Erickson
  • Lisa L Wang
  • Yaran Wen
  • Weidong Jin
  • Tor A Shwayder
  • Alan D Irvine
  • Sharon E Plon
  • W H Irwin McLean
  • Rochelle Bagatell
  • Eric F P M Schoenmakers
  • Rolph Pfundt
  • Gaia Roversi
  • Maria Antonietta Mencarelli
  • Nico Leijsten
  • Fabio Macciardi
  • Michele Fimiani
  • Elisa Adele Colombo
  • Andrea Calabria

Detail Information

Publications14

  1. pmc Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome
    Amanda J Walne
    Centre for Paediatrics, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Barts and The London Children s Hospital, 4 Newark Street, London, UK
    Hum Mol Genet 19:4453-61. 2010
    ..This region included the C16orf57 gene recently identified to be mutated in poikiloderma with neutropenia (PN), an inherited poikiloderma ..
  2. doi Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
    D Concolino
    Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A Pugliese, Catanzaro, Italy
    Am J Med Genet A 152:2588-94. 2010
    ..Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail...
  3. pmc Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
    Carol Clericuzio
    Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA
    Am J Med Genet A 155:337-42. 2011
    ..b>C16orf57 has recently been identified as a causative gene in PN...
  4. doi Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA
    Vadim Shchepachev
    Institute of Biochemistry, Eidgenossische Technische Hochschule Zurich, Zurich, CH 8093, Switzerland
    Cell Rep 2:855-65. 2012
    Clericuzio-type poikiloderma with neutropenia (PN) is a rare genodermatosis associated with mutations in the C16orf57 gene, which codes for the uncharacterized protein hMpn1...
  5. pmc Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
    Ludovica Volpi
    Universita degli Studi di Milano, Dipartimento di Biologia e Genetica per le Scienze Mediche, Milan, Italy
    Am J Hum Genet 86:72-6. 2010
    ..The mutation destroys the invariant AG acceptor site of intron 4 of the evolutionarily conserved C16orf57 gene. Two distinct deleterious mutations (c.502A>G and c...
  6. doi Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia
    Christine Hilcenko
    MRC Laboratory of Molecular Biology, Cambridge, UK
    Blood 121:1028-38. 2013
    The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. Here, we present the 1...
  7. pmc C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification
    Seweryn Mroczek
    Department of Biophysics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02 106 Warsaw, Poland
    Genes Dev 26:1911-25. 2012
    b>C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare, autosomal recessive disease...
  8. pmc Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
    Elisa A Colombo
    Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita degli Studi di Milano, Milano, Italy
    Orphanet J Rare Dis 7:7. 2012
    Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.
  9. doi Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis
    Rattanavalai Chantorn
    Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
    Pediatr Dermatol 29:463-72. 2012
    ..Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN...
  10. doi The Mpn1 RNA exonuclease: cellular functions and implication in disease
    Vadim Shchepachev
    Institute of Biochemistry IBC, Eidgenössische Technische Hochschule Zürich ETHZ, Zurich CH 8093, Switzerland
    FEBS Lett 587:1858-62. 2013
    ..This exonuclease, dubbed Mpn1 or Usb1, is a highly conserved enzyme that specifically removes uridines from the 3' end of U6, and directly generates ..
  11. doi Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria
    A W Arnold
    Department of Dermatology, University Hospital Basel, 4031 Basel, Switzerland
    Br J Dermatol 163:866-9. 2010
    ..The inheritance is autosomal recessive, and mutations in a new gene, C16orf57, were recently described in two kindreds...
  12. doi Systematic search for neutropenia should be part of the first screening in patients with poikiloderma
    Juliette Piard
    Centre de Genetique Humaine, CHU Besancon, France
    Eur J Med Genet 55:8-11. 2012
    ..with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients...