Literature DB >> 7789976

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.

A Hernández1, C Magariño, S Gispert, N Santos, A Lunkes, G Orozco, L Heredero, J Beckmann, G Auburger.   

Abstract

A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguín SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at theta = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguín province.

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Year:  1995        PMID： 7789976     DOI： 10.1016/0888-7543(95)80043-l

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  12 in total

1.  Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.

Authors:  José Miguel Laffita-Mesa; Luis C Velázquez-Pérez; Nieves Santos Falcón; Tania Cruz-Mariño; Yanetza González Zaldívar; Yaimee Vázquez Mojena; Dennis Almaguer-Gotay; Luis Enrique Almaguer Mederos; Roberto Rodríguez Labrada
Journal:  Eur J Hum Genet       Date:  2011-09-21       Impact factor: 4.246

2.  Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.

Authors:  A Lezin; G Cancel; G Stevanin; D Smadja; J C Vernant; A Dürr; J Martial; G G Buisson; R Bellance; H Chneiweiss; Y Agid; A Brice
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

3.  Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

Authors:  Luis Velázquez-Pérez; Jacqueline Medrano-Montero; Roberto Rodríguez-Labrada; Nalia Canales-Ochoa; Jandy Campins Alí; Frank J Carrillo Rodes; Tania Rodríguez Graña; María O Hernández Oliver; Raul Aguilera Rodríguez; Yennis Domínguez Barrios; Reydenis Torres Vega; Lissi Flores Angulo; Noharis Y Cordero Navarro; Aldo A Sigler Villanueva; Osiel Gámez Rodríguez; Ilya Sagaró Zambrano; Nayime Y Navas Napóles; Javier García Zacarías; Orlando R Serrano Barrera; María B Ramírez Bautista; Annelié Estupiñán Rodríguez; Leonardo A Guerra Rondón; Yaimeé Vázquez-Mojena; Yanetza González-Zaldivar; Luis E Almaguer Mederos; Alejandro Leyva-Mérida
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

Review 4.  A comprehensive review of spinocerebellar ataxia type 2 in Cuba.

Authors:  Luis Velázquez-Pérez; Roberto Rodríguez-Labrada; Julio Cesar García-Rodríguez; Luis Enrique Almaguer-Mederos; Tania Cruz-Mariño; José Miguel Laffita-Mesa
Journal:  Cerebellum       Date:  2011-06       Impact factor: 3.847

Review 5.  12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

Authors:  Georg Auburger; Suzana Gispert; Suna Lahut; Ozgür Omür; Ewa Damrath; Melanie Heck; Nazlı Başak
Journal:  World J Diabetes       Date:  2014-06-15

6.  Localization of the candidate gene D-amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2.

Authors:  S Gispert; A Lunkes; N Santos; G Orozco; D Ha-Hao; T Ratzlaff; J Aguiar; I Torrens; L Heredero; A Brice
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

Review 7.  Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Authors:  Roberto Rodríguez-Labrada; Ana Carolina Martins; Jonathan J Magaña; Yaimeé Vazquez-Mojena; Jacqueline Medrano-Montero; Juan Fernandez-Ruíz; Bulmaro Cisneros; Helio Teive; Karen N McFarland; Maria Luiza Saraiva-Pereira; César M Cerecedo-Zapata; Christopher M Gomez; Tetsuo Ashizawa; Luis Velázquez-Pérez; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2020-06       Impact factor: 3.847

8.  Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.

Authors:  Melanie Vanessa Halbach; Tanja Stehning; Ewa Damrath; Marina Jendrach; Nesli Ece Şen; A Nazlı Başak; Georg Auburger
Journal:  PLoS One       Date:  2015-03-19       Impact factor: 3.240

9.  Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.

Authors:  Melanie Vanessa Halbach; Suzana Gispert; Tanja Stehning; Ewa Damrath; Michael Walter; Georg Auburger
Journal:  Cerebellum       Date:  2017-02       Impact factor: 3.847

10.  De novo mutations in ataxin-2 gene and ALS risk.

Authors:  José Miguel Laffita-Mesa; Jorge Michel Rodríguez Pupo; Raciel Moreno Sera; Yaimee Vázquez Mojena; Vivian Kourí; Leonides Laguna-Salvia; Michael Martínez-Godales; José A Valdevila Figueira; Peter O Bauer; Roberto Rodríguez-Labrada; Yanetza González Zaldívar; Martin Paucar; Per Svenningsson; Luís Velázquez Pérez
Journal:  PLoS One       Date:  2013-08-06       Impact factor: 3.240
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