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A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.
1161-1167
Francis, Michael J.
7f216188-6db8-4cd9-82cd-ce02a056b05b
Morrison, Karen E.
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Campbell, Louise
ec5071d4-14fd-484e-88b3-f2af3fc68eb6
Grewal, Prabhjit K.
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Christodoulou, Zóe
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Daniels, Rachael J.
694c1503-8241-466e-8800-6adc0c5fc3b0
Monaco, Anthony P.
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Frischauf, Anne-Marie
059196ee-eb22-4e9f-bc4d-af3bf8877302
McPherson, John
f1f3df0f-8904-4516-827d-bbb0b0fe8ea3
Wasmuth, John
ba612f3f-15bb-479b-a225-59ccb9a6cf42
Davies, Kay E.
6f681b2f-0689-45e1-ba39-7138e4fac227
Francis, Michael J.
7f216188-6db8-4cd9-82cd-ce02a056b05b
Morrison, Karen E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Campbell, Louise
ec5071d4-14fd-484e-88b3-f2af3fc68eb6
Grewal, Prabhjit K.
2f4e73f4-06de-45ad-b4b6-d829c361ef15
Christodoulou, Zóe
c2bfdb0c-1d42-4a6b-be88-7c0e3f2a2fe9
Daniels, Rachael J.
694c1503-8241-466e-8800-6adc0c5fc3b0
Monaco, Anthony P.
74bc735b-1790-47a1-bd82-158eac2956a2
Frischauf, Anne-Marie
059196ee-eb22-4e9f-bc4d-af3bf8877302
McPherson, John
f1f3df0f-8904-4516-827d-bbb0b0fe8ea3
Wasmuth, John
ba612f3f-15bb-479b-a225-59ccb9a6cf42
Davies, Kay E.
6f681b2f-0689-45e1-ba39-7138e4fac227

Francis, Michael J., Morrison, Karen E., Campbell, Louise, Grewal, Prabhjit K., Christodoulou, Zóe, Daniels, Rachael J., Monaco, Anthony P., Frischauf, Anne-Marie, McPherson, John, Wasmuth, John and Davies, Kay E. (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Human Molecular Genetics, 2 (8), 1161-1167.

Record type: Article

Abstract

We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) In 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island In the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.

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More information

Accepted/In Press date: 7 June 1993
Published date: 1993
Organisations: Medical Education

Identifiers

Local EPrints ID: 399555
URI: https://eprints.soton.ac.uk/id/eprint/399555
PURE UUID: 8d9ea8ce-c6d0-427a-8362-e87f2865b299
ORCID for Karen E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

Catalogue record

Date deposited: 18 Aug 2016 13:16
Last modified: 06 Jun 2018 12:19

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Contributors

Author: Michael J. Francis
Author: Louise Campbell
Author: Prabhjit K. Grewal
Author: Zóe Christodoulou
Author: Rachael J. Daniels
Author: Anthony P. Monaco
Author: Anne-Marie Frischauf
Author: John McPherson
Author: John Wasmuth
Author: Kay E. Davies

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