2011
DOI: 10.1038/jhg.2011.129
|View full text |Cite
|
Sign up to set email alerts
|

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

Abstract: Recessive mutations of CAPN3 gene are reported to be responsible for limb girdle muscular dystrophy type 2A (LGMD2A). In all, 15-25% of intronic nucleotide changes identified in this gene were investigated by in silico analysis, but occasionally supported by experimental data or reported in some cases as a polymorphism. We report here genetic and transcriptional analyses in three Tunisian patients belonging to the same consanguineous family sharing the same mutation c.1194-9 A4G and Alu repeats insertion in in… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

0
9
0

Year Published

2013
2013
2021
2021

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 7 publications
(9 citation statements)
references
References 54 publications
(54 reference statements)
0
9
0
Order By: Relevance
“…CHIP-seq data indicate many potential splicing factor binding sites at long distances from intron/exon junctions (Yeo et al, 2009), but few specific examples of regulation-at-a-distance have been previously reported. These elements in the telomerase gene represent the first examples in mammals of specific distant sequences that influence splice choice by a mechanism other than introducing cryptic splice sites (Dominski and Kole, 1993; Friedman et al, 1999; Parra et al, 2012; Pros et al, 2009; Salem et al, 2012). …”
Section: Discussionmentioning
confidence: 99%
“…CHIP-seq data indicate many potential splicing factor binding sites at long distances from intron/exon junctions (Yeo et al, 2009), but few specific examples of regulation-at-a-distance have been previously reported. These elements in the telomerase gene represent the first examples in mammals of specific distant sequences that influence splice choice by a mechanism other than introducing cryptic splice sites (Dominski and Kole, 1993; Friedman et al, 1999; Parra et al, 2012; Pros et al, 2009; Salem et al, 2012). …”
Section: Discussionmentioning
confidence: 99%
“…As compared with exon‐by‐exon genomic sequencing, sequence analysis of complementary DNA (cDNA) may more rapidly identify mutations and also be more efficient in demonstrating the functional consequences of genetic variants localized in non‐coding regions (e.g., deep intron) and/or affecting the correct mRNA splicing or gene expression …”
Section: Genetic Diagnosismentioning
confidence: 99%
“…Few deep intronic CAPN3 gene mutations have been demonstrated to cause pseudo‐exonization of an intronic sequence . Furthermore, large‐exon deletions in the CAPN3 gene, the most frequent of which is a 31,012‐bp deletion involving exons 2–8 (c.309+4469_c.1116–1204del, p.Glu104_Arg372‐delfsX11), genomic rearrangements of Alu elements, and even deletion of the entire CAPN3 gene, have been reported as pathogenetic mutations.…”
Section: Genetic Diagnosismentioning
confidence: 99%
“…For instance, in the human lymphoblastoid cell line, exon 15 was spliced out organically, but only half of exon 6 had been spliced out (Herasse et al, 1999). Additionally, the deletion of exons 1-7 has been detected in humans as well as the novel insertion of Alu elements into the CAPN3 alter splicing sites within intron 7 (Salem et al, 2011). All the splice isoforms generally caused specific changes in CAPN3 function.…”
Section: Introductionmentioning
confidence: 99%
“…The IS1 region is coded by exon 6, while the IS2 region is coded by exons 15 and 16 (Nakajima et al, 2001). Currently, multiple transcripts produced by CAPN3 have been detected in muscle and other tissues in human, monkey, rat, and rabbit (Azuma et al, 2000;Ma et al, 2000;Salem et al, 2011). In rodents, many types of splice variants of CAPN3 mRNA have been described; those characterized on the protein level include lens-specific Lp82 and Lp85 and retina-specific Rt88 Herasse et al, 1999;Ma et al, 2000).…”
Section: Introductionmentioning
confidence: 99%