Literature DB >> 8128967

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

O Clermont1, P Burlet, L Burglen, S Lefebvre, F Pascal, J McPherson, J J Wasmuth, D Cohen, D Le Paslier, J Weissenbach.   

Abstract

The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.

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Year:  1994        PMID： 8128967      PMCID： PMC1918112     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  16 in total

1.  A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers.

Authors:  J Hazan; C Dubay; M P Pankowiak; N Becuwe; J Weissenbach
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

2.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Authors:  J Melki; S Abdelhak; P Sheth; M F Bachelot; P Burlet; A Marcadet; J Aicardi; A Barois; J P Carriere; M Fardeau
Journal:  Nature       Date:  1990-04-19       Impact factor: 49.962

3.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors:  L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal:  Nature       Date:  1990-04-05       Impact factor: 49.962

4.  Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.

Authors:  J Melki; P Burlet; O Clermont; F Pascal; B Paul; S Abdelhak; R Sherrington; H Gurling; Y Nakamura; J Weissenbach
Journal:  Genomics       Date:  1993-03       Impact factor: 5.736

5.  Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5.

Authors:  P Sheth; S Abdelhak; M F Bachelot; P Burlet; M Masset; D Hillaire; F Clerget-Darpoux; J Frézal; G M Lathrop; A Munnich
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

6.  Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.

Authors:  T C Gilliam; N B Freimer; C A Kaufmann; P P Powchik; A S Bassett; U Bengtsson; J J Wasmuth
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

7.  Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.

Authors:  L L Lien; F M Boyce; P Kleyn; L M Brzustowicz; J Menninger; D C Ward; T C Gilliam; L M Kunkel
Journal:  Proc Natl Acad Sci U S A       Date:  1991-09-01       Impact factor: 11.205

8.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

9.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Authors:  T C Gilliam; L M Brzustowicz; L H Castilla; T Lehner; G K Penchaszadeh; R J Daniels; B C Byth; J Knowles; J E Hislop; Y Shapira
Journal:  Nature       Date:  1990-06-28       Impact factor: 49.962

10.  Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Authors:  J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Journal:  Lancet       Date:  1990-08-04       Impact factor: 79.321
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  11 in total

1.  Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

Authors:  C H Wang; P W Kleyn; E Vitale; B M Ross; L Lien; J Xu; T A Carter; L M Brzustowicz; S Obici; S Selig
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

Review 2.  The role of apoptosis in neurodegenerative diseases.

Authors:  P Desjardins; S Ledoux
Journal:  Metab Brain Dis       Date:  1998-06       Impact factor: 3.584

3.  Spinal muscular atrophy genetic testing experience at an academic medical center.

Authors:  Shuji Ogino; Debra G B Leonard; Hanna Rennert; Robert B Wilson
Journal:  J Mol Diagn       Date:  2002-02       Impact factor: 5.568

4.  Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Authors:  R J Daniels; L Campbell; N R Rodrigues; M J Francis; K E Morrison; M McLean; A MacKenzie; J Ignatius; V Dubowitz; K E Davies
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

5.  A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.

Authors:  G van der Steege; J M Cobben; J Osinga; H Scheffer; G J van Ommen; C H Buys
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

6.  Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Authors:  G Matthijs; E Schollen; E Legius; K Devriendt; N Goemans; H Kayserili; M Y Apäk; J J Cassiman
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

7.  Genetic findings of Cypriot spinal muscular atrophy patients.

Authors:  L Theodorou; P Nicolaou; P Koutsou; A Georghiou; V Anastasiadou; G Tanteles; T Kyriakides; E Zamba-Papanicolaou; K Christodoulou
Journal:  Neurol Sci       Date:  2015-05-28       Impact factor: 3.307

8.  A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.

Authors:  Z Yaraghi; M D McLean; N Roy; L Surh; J E Ikeda; R G Korneluk; A MacKenzie
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

9.  Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

Authors:  A M Theodosiou; K E Morrison; A M Nesbit; R J Daniels; L Campbell; M J Francis; Z Christodoulou; K E Davies
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

10.  Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.

Authors:  L M Brzustowicz; C H Wang; D Matseoane; P W Kleyn; E Vitale; K Das; G K Penchaszadeh; T L Munsat; I Hausmanowa-Petrusewicz; T C Gilliam
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
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