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
- Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndromeAmanda 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 ..
- Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotypeD 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...
- Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with NeutropeniaCarol 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...
- Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNAVadim Shchepachev
Institute of Biochemistry, Eidgenossische Technische Hochschule Zurich, Zurich, CH 8093, Switzerland
Cell Rep 2:855-65. 2012Clericuzio-type poikiloderma with neutropenia (PN) is a rare genodermatosis associated with mutations in the C16orf57 gene, which codes for the uncharacterized protein hMpn1...
- Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica 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...
- Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropeniaChristine Hilcenko
MRC Laboratory of Molecular Biology, Cambridge, UK
Blood 121:1028-38. 2013The 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...
- C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modificationSeweryn Mroczek
Department of Biophysics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02 106 Warsaw, Poland
Genes Dev 26:1911-25. 2012b>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...
- Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutationsElisa A Colombo
Dipartimento di Medicina, Chirurgia e Odontoiatria, Universita degli Studi di Milano, Milano, Italy
Orphanet J Rare Dis 7:7. 2012Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.
- Poikiloderma with neutropenia: report of three cases including one with calcinosis cutisRattanavalai 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...
- The Mpn1 RNA exonuclease: cellular functions and implication in diseaseVadim 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 ..
- Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteriaA 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...
- Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette 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...