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

A.M. Theodosiou, K.E. Morrison, A.M. Nesbit, R.J. Daniels, L. Campbell, M.J. Francis, Z. Christodoulou, K.E. Davies

Research output: Contribution to journalArticlepeer-review

36 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1209-1217
Number of pages9
JournalThe American Journal of Human Genetics
Volume55
Issue number6
Publication statusPublished - 01 Dec 1994

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