Literature DB >> 11861579

Comparative analysis of the human dystrophin and utrophin gene structures.

Uberto Pozzoli1, Manuela Sironi, Rachele Cagliani, Giacomo P Comi, Alessandra Bardoni, Nereo Bresolin.   

Abstract

We present analysis of intronic sequences in the human DMD and UTRN genes. In both genes accumulation of repeated elements could account for intron expansion. Out-of-frame rod-domain exons have stronger splice sites and are separated by significantly longer introns as compared to in-frame exons. These features are unique for the two homologs and not shared by other spectrin superfamily genes.

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 11861579      PMCID： PMC1461978     

Source DB:  PubMed          Journal:  Genetics        ISSN： 0016-6731            Impact factor:   4.562


  22 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability.

Authors:  R Suminaga; Y Takeshima; K Yasuda; N Shiga; H Nakamura; M Matsuo
Journal:  J Hum Genet       Date:  2000       Impact factor: 3.172

3.  Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure.

Authors:  D H Mathews; J Sabina; M Zuker; D H Turner
Journal:  J Mol Biol       Date:  1999-05-21       Impact factor: 5.469

4.  Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms.

Authors:  M Sironi; U Pozzoli; R Cagliani; G P Comi; A Bardoni; N Bresolin
Journal:  Hum Genet       Date:  2001-07       Impact factor: 4.132

5.  RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.

Authors:  M B Shapiro; P Senapathy
Journal:  Nucleic Acids Res       Date:  1987-09-11       Impact factor: 16.971

6.  The dystrophin / utrophin homologues in Drosophila and in sea urchin.

Authors:  S Neuman; A Kaban; T Volk; D Yaffe; U Nudel
Journal:  Gene       Date:  2001-01-24       Impact factor: 3.688

7.  Ancestral, mammalian-wide subfamilies of LINE-1 repetitive sequences.

Authors:  A F Smit; G Tóth; A D Riggs; J Jurka
Journal:  J Mol Biol       Date:  1995-02-24       Impact factor: 5.469

8.  Ubiquitous mammalian-wide interspersed repeats (MIRs) are molecular fossils from the mesozoic era.

Authors:  J Jurka; E Zietkiewicz; D Labuda
Journal:  Nucleic Acids Res       Date:  1995-01-11       Impact factor: 16.971

9.  Tiggers and DNA transposon fossils in the human genome.

Authors:  A F Smit; A D Riggs
Journal:  Proc Natl Acad Sci U S A       Date:  1996-02-20       Impact factor: 11.205

10.  The utrophin and dystrophin genes share similarities in genomic structure.

Authors:  M Pearce; D J Blake; J M Tinsley; B C Byth; L Campbell; A P Monaco; K E Davies
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150
View more
  9 in total

1.  Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Authors:  Kevin M Flanigan; Diane M Dunn; Andrew von Niederhausern; Payam Soltanzadeh; Michael T Howard; Jacinda B Sampson; Kathryn J Swoboda; Mark B Bromberg; Jerry R Mendell; Laura E Taylor; Christine B Anderson; Alan Pestronk; Julaine M Florence; Anne M Connolly; Katherine D Mathews; Brenda Wong; Richard S Finkel; Carsten G Bonnemann; John W Day; Craig McDonald; Robert B Weiss
Journal:  Hum Mutat       Date:  2011-03       Impact factor: 4.878

Review 2.  Drosophila as a Model System for Studying of the Evolution and Functional Specialization of the Y Chromosome.

Authors:  Alexei A Kotov; Sergei S Bazylev; Vladimir E Adashev; Aleksei S Shatskikh; Ludmila V Olenina
Journal:  Int J Mol Sci       Date:  2022-04-10       Impact factor: 6.208

3.  Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature.

Authors:  Uberto Pozzoli; Greg Elgar; Rachele Cagliani; Laura Riva; Giacomo P Comi; Nereo Bresolin; Alessandra Bardoni; Manuela Sironi
Journal:  Genome Res       Date:  2003-05       Impact factor: 9.043

4.  Transposable elements in disease-associated cryptic exons.

Authors:  Igor Vorechovsky
Journal:  Hum Genet       Date:  2009-10-10       Impact factor: 4.132

Review 5.  Targeting IRES-dependent translation as a novel approach for treating Duchenne muscular dystrophy.

Authors:  Christine Péladeau; Bernard J Jasmin
Journal:  RNA Biol       Date:  2020-11-19       Impact factor: 4.652

6.  Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations.

Authors:  Xiaozhu Wang; Zheng Wang; Ming Yan; Shangzhi Huang; Tian-Jian Chen; Nanbert Zhong
Journal:  Behav Brain Funct       Date:  2008-04-29       Impact factor: 3.759

7.  Targeting muscle stem cell intrinsic defects to treat Duchenne muscular dystrophy.

Authors:  Nicolas A Dumont; Michael A Rudnicki
Journal:  NPJ Regen Med       Date:  2016-06-09

8.  Satellite DNA-containing gigantic introns in a unique gene expression program during Drosophila spermatogenesis.

Authors:  Jaclyn M Fingerhut; Jessica V Moran; Yukiko M Yamashita
Journal:  PLoS Genet       Date:  2019-05-09       Impact factor: 5.917

9.  The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Authors:  Marcella Neri; Rachele Rossi; Cecilia Trabanelli; Antonio Mauro; Rita Selvatici; Maria Sofia Falzarano; Noemi Spedicato; Alice Margutti; Paola Rimessi; Fernanda Fortunato; Marina Fabris; Francesca Gualandi; Giacomo Comi; Silvana Tedeschi; Manuela Seia; Chiara Fiorillo; Monica Traverso; Claudio Bruno; Emiliano Giardina; Maria Rosaria Piemontese; Giuseppe Merla; Milena Cau; Monica Marica; Carmela Scuderi; Eugenia Borgione; Alessandra Tessa; Guia Astrea; Filippo Maria Santorelli; Luciano Merlini; Marina Mora; Pia Bernasconi; Sara Gibertini; Valeria Sansone; Tiziana Mongini; Angela Berardinelli; Antonella Pini; Rocco Liguori; Massimiliano Filosto; Sonia Messina; Gianluca Vita; Antonio Toscano; Giuseppe Vita; Marika Pane; Serenella Servidei; Elena Pegoraro; Luca Bello; Lorena Travaglini; Enrico Bertini; Adele D'Amico; Manuela Ergoli; Luisa Politano; Annalaura Torella; Vincenzo Nigro; Eugenio Mercuri; Alessandra Ferlini
Journal:  Front Genet       Date:  2020-03-03       Impact factor: 4.599
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.