Literature DB >> 7678331

Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.

F Duclos1, U Boschert, G Sirugo, J L Mandel, R Hen, M Koenig.   

Abstract

Friedreich ataxia (FRDA) is an autosomal recessive degenerative disorder that affects the cerebellum, spinal cord, and peripheral nerves. The FRDA gene was localized in 9q13-q21 within 0.7 centimorgan of the D9S5 and D9S15 loci. One recently reported recombination event and haplotype analysis in a population with a founder effect suggested that the FRDA locus is on the D9S5 side. Using a conserved probe from the D9S5 locus, we have now identified an approximately 7-kilobase (kb) transcript and report cloning of its cDNA. The corresponding gene, X11, extends at least 80 kb in a direction opposite D9S15. The gene is expressed in the brain, including the cerebellum, but is not detectable in several nonneuronal tissues and cell lines. In situ hybridization of adult mouse brain sections showed prominant expression in the granular layer of the cerebellum. Expression was also found in the spinal cord. The cDNA contains an open reading frame encoding a 708-amino acid sequence that shows no significant similarity to other known proteins but contains a unique, 24-residue-long, putative transmembrane segment. On the basis of its genomic localization and its neuronal site of expression, particularly in the cerebellum, this "pioneer" gene represents a candidate for FRDA. Direct evidence of its involvement in FRDA will require a search for causative point mutations in patients.

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Year:  1993        PMID: 7678331      PMCID: PMC45609          DOI: 10.1073/pnas.90.1.109

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  21 in total

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Authors:  S F Altschul; W Gish; W Miller; E W Myers; D J Lipman
Journal:  J Mol Biol       Date:  1990-10-05       Impact factor: 5.469

2.  Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus.

Authors:  D Wilkes; J Shaw; R Anand; J Riley; P Winter; J Wallis; A G Driesel; R Williamson; S Chamberlain
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

3.  Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

Authors:  R Fujita; Y Agid; P Trouillas; A Seck; C Tommasi-Davenas; A J Driesel; K Olek; K H Grzeschik; Y Nakamura; J L Mandel; A Hanauer
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

4.  Rapid and sensitive protein similarity searches.

Authors:  D J Lipman; W R Pearson
Journal:  Science       Date:  1985-03-22       Impact factor: 47.728

5.  Mapping of mutation causing Friedreich's ataxia to human chromosome 9.

Authors:  S Chamberlain; J Shaw; A Rowland; J Wallis; S South; Y Nakamura; A von Gabain; M Farrall; R Williamson
Journal:  Nature       Date:  1988-07-21       Impact factor: 49.962

6.  Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis.

Authors:  S Rogers; R Wells; M Rechsteiner
Journal:  Science       Date:  1986-10-17       Impact factor: 47.728

7.  Analysis of membrane and surface protein sequences with the hydrophobic moment plot.

Authors:  D Eisenberg; E Schwarz; M Komaromy; R Wall
Journal:  J Mol Biol       Date:  1984-10-15       Impact factor: 5.469

8.  The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

Authors:  A Hanauer; M Chery; R Fujita; A J Driesel; S Gilgenkrantz; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

9.  Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.

Authors:  S Chamberlain; J Shaw; J Wallis; A Rowland; L Chow; M Farrall; B Keats; A Richter; M Roy; S Melancon
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

10.  Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.

Authors:  C A Feener; M Koenig; L M Kunkel
Journal:  Nature       Date:  1989-04-06       Impact factor: 49.962

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  17 in total

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Authors:  Z Zhang; C H Lee; V Mandiyan; J P Borg; B Margolis; J Schlessinger; J Kuriyan
Journal:  EMBO J       Date:  1997-10-15       Impact factor: 11.598

2.  Molecular analysis of the X11-mLin-2/CASK complex in brain.

Authors:  J P Borg; M O Lõpez-Figueroa; M de Taddèo-Borg; D E Kroon; R S Turner; S J Watson; B Margolis
Journal:  J Neurosci       Date:  1999-02-15       Impact factor: 6.167

3.  Expression and ultrastructural localization of Mint2 in the spinal cord of rats.

Authors:  Ling-Ling Yao; Xue-Yuan Liu; Ji-Yang Jin; Bei-Bei Tao; Yu-Juan Chen; Yong-Chun Yu; Wei-Hong Bian; Jing Yu; Jing Huang; Yong-Gang Wang
Journal:  Mol Biol Rep       Date:  2010-04-06       Impact factor: 2.316

4.  Basolateral localization of the Caenorhabditis elegans epidermal growth factor receptor in epithelial cells by the PDZ protein LIN-10.

Authors:  C W Whitfield; C Bénard; T Barnes; S Hekimi; S K Kim
Journal:  Mol Biol Cell       Date:  1999-06       Impact factor: 4.138

5.  The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein.

Authors:  J P Borg; J Ooi; E Levy; B Margolis
Journal:  Mol Cell Biol       Date:  1996-11       Impact factor: 4.272

6.  Comparison of primary structure of a neuron-specific protein, X11, between human and mouse.

Authors:  F Duclos; M Koenig
Journal:  Mamm Genome       Date:  1995-01       Impact factor: 2.957

7.  Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.

Authors:  F Rodius; F Duclos; K Wrogemann; D Le Paslier; P Ougen; A Billault; S Belal; C Musenger; A Brice; A Dürr
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

8.  XB51 isoforms mediate Alzheimer's beta-amyloid peptide production by X11L (X11-like protein)-dependent and -independent mechanisms.

Authors:  Akio Sumioka; Seiyu Imoto; Ralph N Martins; Yutaka Kirino; Toshiharu Suzuki
Journal:  Biochem J       Date:  2003-08-15       Impact factor: 3.857

Review 9.  Cytoplasmic tail adaptors of Alzheimer's amyloid-beta protein precursor.

Authors:  Masaoki Kawasumi; Shuji Matsuda; Masaaki Matsuoka; Ikuo Nishimoto
Journal:  Mol Neurobiol       Date:  2004-10       Impact factor: 5.590

10.  Recruitment of the Mint3 adaptor is necessary for export of the amyloid precursor protein (APP) from the Golgi complex.

Authors:  Amanda H Caster; Richard A Kahn
Journal:  J Biol Chem       Date:  2013-08-21       Impact factor: 5.157

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