Human Molecular Genetics, Vol 6, 229-236, Copyright © 1997 by Oxford University Press
TA Carter, CG Bonnemann, CH Wang, S Obici, E Parano, M De Fatima Bonaldo, BM Ross, GK Penchaszadeh, A Mackenzie, MB Soares, LM Kunkel and TC Gilliam
The childhood-onset spinal muscular atrophies are a clinically
heterogeneous group of autosomal recessive disorders characterized by
selective degeneration of the anterior horn cells with subsequent weakness
and atrophy of limb muscles. The disease locus has been mapped to a region
of chromosome 5q13 characterized by genetic instability and DNA
duplication. Among the duplicated genes in this region, SMNT (telomeric
copy; survival motor neuron) is thought to be the major disease determining
gene since it is missing in the majority of SMA patients and since small,
intragenic mutations in the gene have been associated with the disorder.
Approximately half of the severely affected SMA I patients are also missing
both homologues of a neighboring gene, the neuronal apoptosis inhibitory
protein (NAIP). These data indicate that loss of NAIP may affect disease
severity and further, that the molecular events underlying the
childhood-onset SMAs are complex, possibly involving multiple genes. We
report a third multicopy gene in the SMA region, encoding the p44 subunit
of basal transcription factor II (BTF2p44). One copy of this transcription-
repair gene is deleted in at least 15% of all SMA cases.
ARTICLES
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
Department of Genetics and Development, Columbia University, New York, NY, USA.
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