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High resolution physical map of the region surrounding the spinal muscular atrophy gene

High resolution physical map of the region surrounding the spinal muscular atrophy gene
High resolution physical map of the region surrounding the spinal muscular atrophy gene
Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease In Caucasians, second only to cystic fibrosis. in an effort to identify the causative gene in SMA, we have used radiation hybrid (RH) mapping to prepare a high resolution physical map of the proximal region of chromosome 5 (5q11–13) which contains the SMA gene. The map of the SMA region, which spans -4 Mb, contains 19 loci Including 9 polymorphic DNA markers, 8 monomorphic sequence tagged sites (STS) and two genes. Based upon the RH map the two polymorphic loci which most closely flank the SMA locus were estimated to be separated by ?750 kb. Using two different directional cloning schemes, several new clones between the genetic markers which most closely flank SMA were Isolated. These new clones within the SMA candidate region, together with cosmid clones prepared from one RH hybrid which retains an ?1 Mb segment spanning the SMA region as its only human DNA, will greatly facilitate efforts to Identity the gene for SMA. in addition, analysis of cloned DNA segments from within the SMA candidate region has Identified the presence of a novel, chromosome 5-specific, low copy repeated sequence which Is distributed throughout the region containing the SMA gene as well as in at least four other regions of chromosome 5. Whether or not these novel repeated sequences throughout the SMA region are Involved in the disease remains to be determined.
1169-1176
Thompson, Terrl G.
dd525db1-1678-4f85-b8e6-57bd1b650c27
Morrison, Karen E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Kleyn, Patrick
1008a30d-1924-4b96-a5aa-7ca12c1ebe2a
Bengtsson, Ulla
53075959-9658-48c6-923d-09a2909fe375
Gilliam, T.Conrad
0c005f7b-9e94-48fd-a904-602aae265064
Davies, Kay E.
6f681b2f-0689-45e1-ba39-7138e4fac227
Wasmuth, John J.
b4555e7e-f908-41f5-af12-16f1a1be274f
McPherson, John D.
dca7f4e9-cd35-4079-92f1-2f8bd230d800
Thompson, Terrl G.
dd525db1-1678-4f85-b8e6-57bd1b650c27
Morrison, Karen E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Kleyn, Patrick
1008a30d-1924-4b96-a5aa-7ca12c1ebe2a
Bengtsson, Ulla
53075959-9658-48c6-923d-09a2909fe375
Gilliam, T.Conrad
0c005f7b-9e94-48fd-a904-602aae265064
Davies, Kay E.
6f681b2f-0689-45e1-ba39-7138e4fac227
Wasmuth, John J.
b4555e7e-f908-41f5-af12-16f1a1be274f
McPherson, John D.
dca7f4e9-cd35-4079-92f1-2f8bd230d800

Thompson, Terrl G., Morrison, Karen E., Kleyn, Patrick, Bengtsson, Ulla, Gilliam, T.Conrad, Davies, Kay E., Wasmuth, John J. and McPherson, John D. (1993) High resolution physical map of the region surrounding the spinal muscular atrophy gene. Human Molecular Genetics, 2 (8), 1169-1176. (doi:10.1093/hmg/2.8.1169).

Record type: Article

Abstract

Spinal muscular atrophy (SMA) is the second most common lethal, autosomal recessive disease In Caucasians, second only to cystic fibrosis. in an effort to identify the causative gene in SMA, we have used radiation hybrid (RH) mapping to prepare a high resolution physical map of the proximal region of chromosome 5 (5q11–13) which contains the SMA gene. The map of the SMA region, which spans -4 Mb, contains 19 loci Including 9 polymorphic DNA markers, 8 monomorphic sequence tagged sites (STS) and two genes. Based upon the RH map the two polymorphic loci which most closely flank the SMA locus were estimated to be separated by ?750 kb. Using two different directional cloning schemes, several new clones between the genetic markers which most closely flank SMA were Isolated. These new clones within the SMA candidate region, together with cosmid clones prepared from one RH hybrid which retains an ?1 Mb segment spanning the SMA region as its only human DNA, will greatly facilitate efforts to Identity the gene for SMA. in addition, analysis of cloned DNA segments from within the SMA candidate region has Identified the presence of a novel, chromosome 5-specific, low copy repeated sequence which Is distributed throughout the region containing the SMA gene as well as in at least four other regions of chromosome 5. Whether or not these novel repeated sequences throughout the SMA region are Involved in the disease remains to be determined.

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More information

Accepted/In Press date: 16 June 1993
Published date: August 1993
Organisations: Medical Education

Identifiers

Local EPrints ID: 399556
URI: https://eprints.soton.ac.uk/id/eprint/399556
PURE UUID: b04dd39c-5a1a-4bab-bde8-935fdacdb1d9
ORCID for Karen E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 13:24
Last modified: 06 Jun 2018 12:19

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Contributors

Author: Terrl G. Thompson
Author: Patrick Kleyn
Author: Ulla Bengtsson
Author: T.Conrad Gilliam
Author: Kay E. Davies
Author: John J. Wasmuth
Author: John D. McPherson

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