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

Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
Childhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that have been isolated from this interval, several of which show sequence homologies to exons of beta-glucuronidase. These gene sequences are repeated several times across the candidate region and are also present on chromosome 5p. The arrangement of these repetitive gene motifs is polymorphic between individuals. The high degree of variability observed may have some influence on the expression of the genes in the region. Since SMA is not inherited as a classical autosomal recessive disease, novel genomic rearrangements arising from aberrant recombination events between the complex repeats may be associated with the phenotype observed.
0002-9297
1209-1217
Theodosiou, A.M.
fb12e9cc-7018-4fd2-b36f-94e5e0d73f35
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Nesbit, A.M.
5294b234-ce14-4cd6-8b49-e2b0209b87b5
Daniels, R.J.
6ce0daff-d937-45d6-a074-c7c0e9889523
Campbell, L.
55f0f877-c982-4898-b9c0-b03474d3656c
Francis, M.J.
c207e79b-ef95-487e-895a-3d2d0476d6a5
Christodoulou, Z.
1a0ec42a-63e7-4dea-8ff7-f6cc5190c18a
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
Theodosiou, A.M.
fb12e9cc-7018-4fd2-b36f-94e5e0d73f35
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Nesbit, A.M.
5294b234-ce14-4cd6-8b49-e2b0209b87b5
Daniels, R.J.
6ce0daff-d937-45d6-a074-c7c0e9889523
Campbell, L.
55f0f877-c982-4898-b9c0-b03474d3656c
Francis, M.J.
c207e79b-ef95-487e-895a-3d2d0476d6a5
Christodoulou, Z.
1a0ec42a-63e7-4dea-8ff7-f6cc5190c18a
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6

Theodosiou, A.M., Morrison, K.E., Nesbit, A.M., Daniels, R.J., Campbell, L., Francis, M.J., Christodoulou, Z. and Davies, K.E. (1994) Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. The American Journal of Human Genetics, 55 (6), 1209-1217. (PMID:7977382)

Record type: Article

Abstract

Childhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that have been isolated from this interval, several of which show sequence homologies to exons of beta-glucuronidase. These gene sequences are repeated several times across the candidate region and are also present on chromosome 5p. The arrangement of these repetitive gene motifs is polymorphic between individuals. The high degree of variability observed may have some influence on the expression of the genes in the region. Since SMA is not inherited as a classical autosomal recessive disease, novel genomic rearrangements arising from aberrant recombination events between the complex repeats may be associated with the phenotype observed.

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Published date: December 1994
Organisations: Medical Education

Identifiers

Local EPrints ID: 399559
URI: https://eprints.soton.ac.uk/id/eprint/399559
ISSN: 0002-9297
PURE UUID: 92879b1d-8709-43de-ad89-0dd348e84d50
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 13:05
Last modified: 06 Jun 2018 12:19

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Contributors

Author: A.M. Theodosiou
Author: K.E. Morrison ORCID iD
Author: A.M. Nesbit
Author: R.J. Daniels
Author: L. Campbell
Author: M.J. Francis
Author: Z. Christodoulou
Author: K.E. Davies

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