SURVIVAL MOTOR-NEURON GENE TRANSCRIPT ANALYSIS IN MUSCLES FROM SPINAL MUSCULAR-ATROPHY PATIENTS

被引：176

作者：

GENNARELLI, M

LUCARELLI, M

CAPON, F

PIZZUTI, A

MERLINI, L

ANGELINI, C

NOVELLI, G

DALLAPICCOLA, B

机构：

[1] UNIV ROMA TOR VERGATA,FAC MED,EDIFICIO E NORD,DIPARTIMENTO SANITA PUBBL & BIOLE,I-00133 ROME,ITALY

[2] UNIV ROMA LA SAPIENZA,DIPARTIMENTO BIOPATOL UMANA,ROME,ITALY

[3] FOURTH MIL MED UNIV,IST CLIN NEUROL,MILAN,ITALY

[4] IST ORTOPED RIZZOLI,BOLOGNA,ITALY

[5] UNIV PADUA,IST CLIN MALATTIE NERVOSE & MENTALI,PADUA,ITALY

[6] UNIV CATTOLICA SACRO CUORE,CATTEDRA GENET UMANA,ROME,ITALY

[7] OSPED CSS,IRCCS,SAN GIOVANNI ROTO,ITALY

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1995年 / 213卷 / 01期

关键词：

D O I：

10.1006/bbrc.1995.2135

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. (C) 1995 Academic Press, Inc.

引用

页码：342 / 348

页数：7

共 11 条

[1]

CAPON F, UNPUB

[2]

CHOMCZYNSKI P, 1987, ANAL BIOCHEM, V162, P156, DOI 10.1016/0003-2697(87)90021-2

[3] IS THE SPINAL MUSCULAR-ATROPHY GENE FOUND [J].