Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

M. Gennarelli; M. Lucarelli; F. Capon; A. Pizzuti; L. Merlini; C. Angelini; G. Novelli; B. Dallapiccola

doi:10.1006/bbrc.1995.2135

Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

M. Gennarelli, M. Lucarelli, F. Capon, A. Pizzuti, L. Merlini, C. Angelini, G. Novelli, B. Dallapiccola

Research output: Contribution to journal › Article › peer-review

Abstract

We have identified and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls. These isoforms appear to be generated by combinatorial splicing of both exons 5 and 7 of the SMN telomeric and centromeric gene copies. The full-size and the truncated SMN-1b isoforms of the telomeric SMN copy are significantly reduced in muscle of SMA patients, irrespective of the disease types. Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle.

Original language	English
Pages (from-to)	342-348
Number of pages	7
Journal	Biochemical and Biophysical Research Communications
Volume	213
Issue number	1
DOIs	https://doi.org/10.1006/bbrc.1995.2135
Publication status	Published - Aug 1995

ASJC Scopus subject areas

Molecular Biology
Cell Biology
Biophysics
Biochemistry

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Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients. / Gennarelli, M.; Lucarelli, M.; Capon, F.; Pizzuti, A.; Merlini, L.; Angelini, C.; Novelli, G.; Dallapiccola, B.

In: Biochemical and Biophysical Research Communications, Vol. 213, No. 1, 08.1995, p. 342-348.

Research output: Contribution to journal › Article › peer-review

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