Literature DB >> 7767657

Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.

B Wirth1, A el-Agwany, A Baasner, A Burghes, A Koch, A Dadze, B Piechaczeck-Wappenschmidt, S Rudnik-Schöneborn, K Zerres, J Schönling.   

Abstract

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped between D5S629 and D5S557. We report here a new single-locus microsatellite A31 (D5S823) and two multicopy microsatellites 97T-CA and 95/23-CA. The marker A31 maps to the region of overlap between YACs y116, y55 and y122, distal to D5S629; 97T-CA originates from a cosmid corresponding to the STS 97T, localized distally to A31, while 95/23-CA derives from a cosmid corresponding to the STS 97U, localized proximally to D5S557. We tested all our key recombinant families with these markers. In one type I/II SMA family, a recombinant was found that placed the SMA locus distal to D5S823. Homozygosity mapping in a consanguineous type I SMA family indicates that the SMA gene lies proximal to 95/23-CA. Thus, the two new markers, A31 and 95/23-CA further refine the SMA gene to an approximately 750-kb interval.

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Year:  1995        PMID： 7767657     DOI： 10.1159/000472274

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  9 in total

Review 1.  Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

Authors:  Sebastian Lunke; Assam El-Osta
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

2.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Authors:  E Hahnen; J Schönling; S Rudnik-Schöneborn; K Zerres; B Wirth
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.

Authors:  H Erdem; S Pehlivan; H Topaloğlu; D Yalnizoğlu; Z Akçören
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  When is a deletion not a deletion? When it is converted.

Authors:  A H Burghes
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

5.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

Authors:  P E McAndrew; D W Parsons; L R Simard; C Rochette; P N Ray; J R Mendell; T W Prior; A H Burghes
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Authors:  Corey Ruhno; Vicki L McGovern; Matthew R Avenarius; Pamela J Snyder; Thomas W Prior; Flavia C Nery; Abdurrahman Muhtaseb; Jennifer S Roggenbuck; John T Kissel; Valeria A Sansone; Jennifer J Siranosian; Alec J Johnstone; Pann H Nwe; Ren Z Zhang; Kathryn J Swoboda; Arthur H M Burghes
Journal:  Hum Genet       Date:  2019-02-20       Impact factor: 4.132

7.  Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Authors:  D W Parsons; P E McAndrew; S T Iannaccone; J R Mendell; A H Burghes; T W Prior
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

Review 8.  Spinal muscular atrophy: development and implementation of potential treatments.

Authors:  W David Arnold; Arthur H M Burghes
Journal:  Ann Neurol       Date:  2013-09       Impact factor: 10.422

9.  Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies.

Authors:  Monique A Lorson; Lee D Spate; Randall S Prather; Christian L Lorson
Journal:  Dev Dyn       Date:  2008-08       Impact factor: 3.780
  9 in total

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