USH1G

Summary

Gene Symbol: USH1G
Description: USH1 protein network component sans
Alias: ANKS4A, SANS, Usher syndrome type-1G protein, Usher syndrome 1G (autosomal recessive), scaffold protein containing ankyrin repeats and SAM domain
Species: human

Top Publications

  1. doi UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
    David Baux
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
    Hum Mutat 29:E76-87. 2008
  2. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
    Am J Hum Genet 69:25-34. 2001
  3. ncbi A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
    Mirna Mustapha
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Genet 110:348-50. 2002
  4. ncbi Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    Dominique Weil
    Unité de Génétique des Déficits Sensoriels, CNRS URA1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 12:463-71. 2003
  5. ncbi Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 116:292-9. 2005
  6. ncbi A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
    E Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Mol Med (Berl) 83:1025-32. 2005
  7. pmc The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins
    Jing Yan
    Department of Biochemistry, Molecular Neuroscience Center, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Proc Natl Acad Sci U S A 107:4040-5. 2010
  8. doi The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells
    Junhuang Zou
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA
    Hum Mol Genet . 2016
  9. doi Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis
    Katharina Baus
    Cell and Matrix Biology, Institute of Zoology, Focus Program Translational Neurosciences FTN, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany
    Hum Mol Genet 23:3923-42. 2014
  10. pmc Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    PLoS ONE 9:e90688. 2014

Scientific Experts

  • Nicholas J Hudson
  • Carmen Ayuso
  • Nasrin Sorusch
  • Jun Liang
  • Bharti Katbamna
  • Faiqa Imtiaz
  • Maria Bitner-Glindzicz
  • E Kalay
  • Uwe Wolfrum
  • Christine Petit
  • Nora Overlack
  • Tina Märker
  • Hannie Kremer
  • Teresa Jaijo
  • Elena Aller
  • Jean Pierre Hardelin
  • Erwin Van Wijk
  • Jose M Millan
  • Jan Reiners
  • Lin Wu
  • Dominique Weil
  • David Baux
  • Tina Maerker
  • Yuki Miyasaka
  • Samia Abdi
  • Junhuang Zou
  • Malek Louha
  • Crystel Bonnet
  • Zied Riahi
  • Tahir AtIk
  • Anne Marthe Maria Oonk
  • S Lenarduzzi
  • Hidekane Yoshimura
  • Z M Ahmed
  • Katharina Baus
  • Amel Bahloul
  • Samantha Papal
  • Qing Yin Zheng
  • Polona Le Quesne Stabej
  • Ronald Roepman
  • Belen Hurle
  • Leah Rizel
  • Elisa Caberlotto
  • Mingjie Zhang
  • Lifeng Pan
  • Katharina Bauss
  • Christel Vache
  • Jing Yan
  • Hiromichi Yonekawa
  • Yoshiaki Kikkawa
  • Valérie Faugère
  • Mireille Claustres
  • Sue Malcolm
  • Anne Francoise Roux
  • Eberhard Schneider
  • Lise Larrieu
  • Carmen Najera
  • Magdalena Beneyto
  • Mirna Mustapha
  • Aziz El-Amraoui
  • Kerstin Nagel-Wolfrum
  • Christian Hamel
  • Karin Jürgens
  • Xiao Mei Ouyang
  • P Horak
  • Mohamed Makrelouf
  • A T DeWan
  • Djamel Selmane
  • Choji Taya
  • Yahia Rous
  • Ryo Kominami
  • Yasuhiro Ohshiba
  • Jean Baptiste Vincourt
  • Tihua Zheng
  • Zahida Merad
  • Ahmed Cheknene
  • Pranav Dinesh Mathur
  • Asma Behlouli
  • Kazuhiro Okumura
  • Cong Tian
  • Ken Kitamura
  • Toyoyuki Takada
  • Sachi Yoshimoto
  • Hiroshi Hibino
  • Sari Suzuki
  • Qing Y Zheng
  • Ali Almishaal
  • Kamel Boudjelida
  • Mokhtar Hasbelaoui
  • Rachid Belouni

Detail Information

Publications49

  1. doi UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
    David Baux
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, F 34000, France
    Hum Mutat 29:E76-87. 2008
    ..databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  2. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
    Am J Hum Genet 69:25-34. 2001
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F...
  3. ncbi A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25
    Mirna Mustapha
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Genet 110:348-50. 2002
    ..A genome-wide screening allowed us to map this novel locus, USH1G, in a 23-cM interval on chromosome 17q24-25...
  4. ncbi Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
    Dominique Weil
    Unité de Génétique des Déficits Sensoriels, CNRS URA1968, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Hum Mol Genet 12:463-71. 2003
    ..We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2...
  5. ncbi Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
    Xiao Mei Ouyang
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 116:292-9. 2005
    ..involved the USH1B and USH1D genes, followed by 11% for USH1F and 7% for USH1C in non-Acadian alleles and 7% for USH1G. Two of the 12 MYO7A mutations, R666X and IVS40-1G > T accounted for 38% of the mutations at that locus...
  6. ncbi A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
    E Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Mol Med (Berl) 83:1025-32. 2005
    ..07 at theta=0.0 for the marker D17S801. The linkage interval contains the Usher syndrome 1G gene (USH1G) that is mutated in patients with Usher syndrome (USH) type 1g and encodes the SANS protein...
  7. pmc The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins
    Jing Yan
    Department of Biochemistry, Molecular Neuroscience Center, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Proc Natl Acad Sci U S A 107:4040-5. 2010
    ..Harmonin/USH1C and Sans/USH1G are two of the USH1 proteins that interact with each other...
  8. doi The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells
    Junhuang Zou
    Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, Salt Lake City, UT 84132, USA
    Hum Mol Genet . 2016
    ..The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin...
  9. doi Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis
    Katharina Baus
    Cell and Matrix Biology, Institute of Zoology, Focus Program Translational Neurosciences FTN, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany
    Hum Mol Genet 23:3923-42. 2014
    ..as a new component of the USH protein interactome, binding to the multifunctional scaffold protein SANS (USH1G)...
  10. pmc Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1
    Hidekane Yoshimura
    Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    PLoS ONE 9:e90688. 2014
    ..In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance. ..
  11. doi Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies
    Nasrin Sorusch
    Institute of Zoology, Dept Cell and Matrix Biology, Johannes Gutenberg University Mainz, Mainz, Germany
    Adv Exp Med Biol 801:527-33. 2014
    ..proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G)...
  12. pmc Sensory rewiring in an echolocator: genome-wide modification of retinogenic and auditory genes in the bat Myotis davidii
    Nicholas J Hudson
    Computational and Systems Biology, CSIRO Agriculture Flagship, Queensland Bioscience Precinct, Brisbane, Queensland, Australia
    G3 (Bethesda) 4:1825-35. 2014
    ..RHO, PRPH2, and SOX9) and hearing-related (TPRN, TMIE, SLC52A3, OTOF, WFS1, SOD1, TBX18, MAP1A, OTOS, GPX1, and USH1G) machinery in M. davidii but not P. alecto. All vision and hearing genes selectively enriched in M...
  13. doi Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum
    Anne Marthe Maria Oonk
    1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Ear Hear 36:205-11. 2015
    ..The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome.
  14. doi Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis
    S Lenarduzzi
    Department of Medical Sciences, University of Trieste, Italy
    Hear Res 320:18-23. 2015
    ..and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%)...
  15. pmc Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients
    Zied Riahi
    Institut Pasteur de Tunis, LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory, 1002, Tunis, Tunisia Faculté des Sciences de Tunis, Université de Tunis El Manar, 2092 El Manar I Tunis, Tunis, Tunisia
    PLoS ONE 10:e0120584. 2015
    ..5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*)...
  16. doi Identification of stage-specific biomarkers in lung adenocarcinoma based on RNA-seq data
    Jun Liang
    Department of Oncology, The Affilicated Hospital of Qingdao University, No 16 Jiangsu Road, ShiNan district, Qingdao, 266000, Shandong Province, China
    Tumour Biol 36:6391-9. 2015
    ..ANGPTL5, C7orf16, EDN3, LOC150622, HOXA11AS, IL1F5, and USH1G significantly distinguished stage III from stages I and II...
  17. pmc Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
    Tahir AtIk
    Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey
    PLoS ONE 10:e0142154. 2015
    ..had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23). Of these variants, eight are novel. Mutation detection rate of our workflow is 72...
  18. ncbi Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23
    Yuki Miyasaka
    Mammalian Genetics Project, Graduate School of Medical and Dental Sciences
    Hum Mol Genet 25:2045-2059. 2016
    ..Jackson shaker (Ush1gjs) is a mouse model of recessive deafness that exhibits congenital profound deafness caused by the ..
  19. pmc Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
    Samia Abdi
    Laboratoire de Biochimie Genetique, Service de biologie CHU de Bab El Oued, Université d Alger 1, 16 Alger, Algerie
    PLoS ONE 11:e0161893. 2016
    ..mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously reported...
  20. doi Prenatal smoke exposure: effects on infant auditory system and placental gene expression
    Bharti Katbamna
    Department of Speech Pathology and Audiology, Western Michigan University, Kalamazoo, MI 49008 5355, United States
    Neurotoxicol Teratol 38:61-71. 2013
    ..The neurological process clusters included 7 genes (EML2, OTOR, SLC26A5, TBL1X, TECTA, USH1C and USH1G) known to modulate cochlear outer hair cell motility...
  21. pmc Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
    Leah Rizel
    The Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel
    Mol Vis 17:3548-55. 2011
    ..This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families...
  22. pmc Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes
    Qing Yin Zheng
    Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    Hum Mol Genet 21:2588-98. 2012
    ..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
  23. pmc USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 18:1885-94. 2012
    ..To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation...
  24. ncbi Polymorphism analysis and RH mapping of the canine Usher syndrome 1G (USH1G) gene to CFA9
    P Horak
    Department of Animal Morphology, Physiology and Genetics, Mendel University of Agriculture and Forestry Brno, Zemedelska 1, 613 00 Brno, Czech Republic
    Anim Genet 36:270-1. 2005
  25. doi The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route
    Samantha Papal
    Institut Pasteur, Unite de Genetique et Physiologie de l Audition, Paris, France
    Hum Mol Genet 22:3773-88. 2013
    ..We showed that spectrin βV also associates with two USH1 proteins, sans (USH1G) and harmonin (USH1C)...
  26. doi Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
    Christel Vache
    CHU Montpellier, Laboratoire de Genetique Moleculaire, Montpellier, France
    Hum Mutat 31:734-41. 2010
    ..RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2...
  27. pmc Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    Polona Le Quesne Stabej
    Clinical and Molecular Genetics, Institute of Child Health, UCL, London, UK
    J Med Genet 49:27-36. 2012
    ..This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance...
  28. doi Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina
    Nora Overlack
    Institute of Zoology, Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Mainz, Germany
    Biochim Biophys Acta 1813:1883-92. 2011
    ..We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain) contributes to the periciliary protein network in retinal photoreceptor cells...
  29. ncbi Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome
    Elena Aller
    Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain
    Ophthalmic Genet 28:151-5. 2007
    ..The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome...
  30. ncbi [A preliminary study of low dosage zuclopenthixol depot in Alzheimer's disease]
    A Robles
    Servicio de Neurologia, Hospital General de Galicia, Santiago de Compostela
    Rev Neurol 24:273-5. 1996
    ..the Scale for the Assessment of Positive Symptoms (SAPS) and the Scale for the Assessment of Negative Symptoms (SANS). Possible extrapyramidal side effects were evaluated by means of the Abnormal Involuntary Movement Scale (AIMS)...
  31. ncbi Clinical symptoms and regional cerebral blood flow in schizophrenia
    S Yuasa
    Department of Neuropsychiatry, Toyama Medical and Pharmaceutical University, Japan
    Eur Arch Psychiatry Clin Neurosci 246:7-12. 1995
    ..Clinical symptoms were assessed using the Scale for the Assessment of Negative Symptoms (SANS), selected items for the Positive and Negative Syndrome Scale (PANSS), and the scale for Schneider's first rank ..
  32. ncbi A subscale for negative symptoms from the Comprehensive Psychopathological Rating Scale (CPRS): a comparison with the Schedule for Assessment of Negative Symptoms (SANS)
    E Lindstrom
    Department of Psychiatry, University Hospital, Uppsala, Sweden
    Eur Arch Psychiatry Clin Neurosci 246:219-23. 1996
    ..In 40 of these patients the Schedule for Assessment of Negative Symptoms (SANS) was also applied in order to determine which items in the CPRS represent negative schizophrenic symptoms...
  33. ncbi Diagnosis and six-month stability of negative symptoms in psychotic disorders
    S Fennig
    Department of Psychiatry and Behavioral Science, State University of New York at Stony Brook 11794-8790, USA
    Eur Arch Psychiatry Clin Neurosci 246:63-70. 1996
    ..The analysis focused on patients who were rated on the Scale for the Assessment of Negative Symptoms (SANS) within 45 days of admission and at follow-up 6 months later...
  34. ncbi A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval
    A T DeWan
    The Laboratory of Statistical Genetics, The Rockefeller University, New York, New York, USA
    Clin Genet 63:39-45. 2003
    ..The same gene is probably responsible for both DFNA20/DFNA26. In addition, the USH1G locus maps to this region and could be an allelic variant of the gene responsible for DFNA20/DFNA26...
  35. ncbi Molecular and functional characterization of SLC26A11, a sodium-independent sulfate transporter from high endothelial venules
    Jean Baptiste Vincourt
    Laboratoire de Biologie Vasculaire, Institut de Pharmacologie et de Biologie Structurale du CNRS, Toulouse, France
    FASEB J 17:890-2. 2003
    ..gene mapped to human chromosome 17q25, very close to the hereditary hearing loss diseases loci DFNA20, DFNA26, and USH1G. RT-PCR analysis of SLC26 sulfate transporters in human HEVEC revealed coexpression of SLC26A11 with SLC26A2/DTDST ..
  36. ncbi The molecular genetics of Usher syndrome
    Z M Ahmed
    National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
    Clin Genet 63:431-44. 2003
    ..cadherin 23), PCDH15 (encoding protocadherin 15), USH1C (encoding harmonin), USH3A (encoding clarin 1), and USH1G (encoding SANS)...
  37. ncbi Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)
    Jan Reiners
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany
    Mol Vis 11:347-55. 2005
    ..Recent studies indicated that three USH1 proteins, namely myosin VIIa (USH1B), SANS (USH1G), and cadherin 23 (USH1D) interact with the USH1C gene product harmonin...
  38. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan Reiners
    Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
    Exp Eye Res 83:97-119. 2006
    ..proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G). In addition, two USH2 genes and one USH3A gene have been identified...
  39. pmc Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
    Elisa Caberlotto
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, 75724 Paris Cedex 15, France
    Proc Natl Acad Sci U S A 108:5825-30. 2011
    ..In this study we address the role of sans, a putative scaffold protein and product of the USH1G gene...
  40. ncbi A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
    Tina Maerker
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany
    Hum Mol Genet 17:71-86. 2008
    ..Here, we analyzed a protein network organized in the absence of harmonin by the scaffold proteins SANS (USH1G) and whirlin (USH2D)...
  41. ncbi SANS (USH1G) expression in developing and mature mammalian retina
    Nora Overlack
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
    Vision Res 48:400-12. 2008
    ..The USH1G gene encodes the SANS (scaffold protein containing ankyrin repeats and SAM domain) protein which consists of protein motifs known to mediate protein-protein interactions...
  42. doi Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
    Eberhard Schneider
    Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany
    Hum Mol Genet 18:655-66. 2009
    ..Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome...
  43. doi Microarray-based mutation analysis of 183 Spanish families with Usher syndrome
    Teresa Jaijo
    Unidad de Genética Hospital Universitario La Fe, Valencia, Spain
    Invest Ophthalmol Vis Sci 51:1311-7. 2010
    ..The purpose of this study was to test the ability of the genotyping microarray for Usher syndrome (USH) to identify the mutations responsible for the disease in a cohort of 183 patients with USH...
  44. ncbi A simple method for performing routine histopathological examination of the cardiac conduction tissue in the dog
    B M Palate
    Searle European Development Centre, Mont Saint Guibert, Belgium
    Toxicol Pathol 23:56-62. 1995
    ..An average of 5 slides per node was needed to perform a satisfactory examination of each of the SANs and AVNs.
  45. pmc An update on the genetics of usher syndrome
    Jose M Millan
    Unidad de Genetica, Instituto de Investigación Sanitaria La Fe, 46009 Valencia, Spain
    J Ophthalmol 2011:417217. 2011
    ..To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D)...
  46. pmc Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses
    Belen Hurle
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Evol Biol 11:23. 2011
    ..We extend our evolutionary study to include the gene mutated in Usher syndrome (USH) subtype 1G (Ush1g), both because of the head-to-tail clustering of Ush1g with Otop2 and because Otop1 and Ush1g mutations result in ..
  47. doi Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo
    Lin Wu
    Division of Life Science, Molecular Neuroscience Center, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
    Science 331:757-60. 2011
    ..1, ezrin, radixin, moesin (MyTH4-FERM) domains in the myosin tail that binds to another USH1 protein, Sans. We report the crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2...