Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene

Peter B. Cserhalmi-Friedman, John A. McGrath, Jemima E. Mellerio, Rowena Romero, Julio Cesar Salas-Alanis, Amy S. Paller, Harry C. Dietz, Angela M. Christiano

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Restoration of open reading frame resulting from exon skipping has been documented as a mechanism of rescuing an mRNA transcript containing mutations. In this study, we describe a mutation in a family with dystrophic epidermolysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII collagen gene (COL7A1) and predicted to lead to a frameshift and downstream premature termination codon. Unexpectedly, mRNA analysis revealed instead that the intraexonic deletion led to skipping of exon 87 and subsequent restoration of the open reading frame. The phenotypes and patterns of inheritance observed in this family arise from three different mutations, all of which affect RNA processing. Restoration of open reading frame by exon skipping represents a previously undescribed mechanism of action of intraexonic deletion mutations.
Original languageEnglish
Pages (from-to)1483-1492
Number of pages10
JournalLaboratory Investigation
Publication statusPublished - 1 Dec 1998
Externally publishedYes

Fingerprint

Open Reading Frames
Exons
Mutation
Genes
Collagen Type VII
Epidermolysis Bullosa Dystrophica
Inheritance Patterns
Messenger RNA
Nonsense Codon
Sequence Deletion
RNA
Phenotype

Cite this

Cserhalmi-Friedman, P. B., McGrath, J. A., Mellerio, J. E., Romero, R., Salas-Alanis, J. C., Paller, A. S., ... Christiano, A. M. (1998). Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Laboratory Investigation, 1483-1492.
Cserhalmi-Friedman, Peter B. ; McGrath, John A. ; Mellerio, Jemima E. ; Romero, Rowena ; Salas-Alanis, Julio Cesar ; Paller, Amy S. ; Dietz, Harry C. ; Christiano, Angela M. / Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. In: Laboratory Investigation. 1998 ; pp. 1483-1492.
@article{f44a82ce07a4428ba973495127f4f013,
title = "Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene",
abstract = "Restoration of open reading frame resulting from exon skipping has been documented as a mechanism of rescuing an mRNA transcript containing mutations. In this study, we describe a mutation in a family with dystrophic epidermolysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII collagen gene (COL7A1) and predicted to lead to a frameshift and downstream premature termination codon. Unexpectedly, mRNA analysis revealed instead that the intraexonic deletion led to skipping of exon 87 and subsequent restoration of the open reading frame. The phenotypes and patterns of inheritance observed in this family arise from three different mutations, all of which affect RNA processing. Restoration of open reading frame by exon skipping represents a previously undescribed mechanism of action of intraexonic deletion mutations.",
author = "Cserhalmi-Friedman, {Peter B.} and McGrath, {John A.} and Mellerio, {Jemima E.} and Rowena Romero and Salas-Alanis, {Julio Cesar} and Paller, {Amy S.} and Dietz, {Harry C.} and Christiano, {Angela M.}",
year = "1998",
month = "12",
day = "1",
language = "English",
pages = "1483--1492",
journal = "Laboratory Investigation",
issn = "0023-6837",
publisher = "Nature Publishing Group",

}

Cserhalmi-Friedman, PB, McGrath, JA, Mellerio, JE, Romero, R, Salas-Alanis, JC, Paller, AS, Dietz, HC & Christiano, AM 1998, 'Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene', Laboratory Investigation, pp. 1483-1492.

Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. / Cserhalmi-Friedman, Peter B.; McGrath, John A.; Mellerio, Jemima E.; Romero, Rowena; Salas-Alanis, Julio Cesar; Paller, Amy S.; Dietz, Harry C.; Christiano, Angela M.

In: Laboratory Investigation, 01.12.1998, p. 1483-1492.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene

AU - Cserhalmi-Friedman, Peter B.

AU - McGrath, John A.

AU - Mellerio, Jemima E.

AU - Romero, Rowena

AU - Salas-Alanis, Julio Cesar

AU - Paller, Amy S.

AU - Dietz, Harry C.

AU - Christiano, Angela M.

PY - 1998/12/1

Y1 - 1998/12/1

N2 - Restoration of open reading frame resulting from exon skipping has been documented as a mechanism of rescuing an mRNA transcript containing mutations. In this study, we describe a mutation in a family with dystrophic epidermolysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII collagen gene (COL7A1) and predicted to lead to a frameshift and downstream premature termination codon. Unexpectedly, mRNA analysis revealed instead that the intraexonic deletion led to skipping of exon 87 and subsequent restoration of the open reading frame. The phenotypes and patterns of inheritance observed in this family arise from three different mutations, all of which affect RNA processing. Restoration of open reading frame by exon skipping represents a previously undescribed mechanism of action of intraexonic deletion mutations.

AB - Restoration of open reading frame resulting from exon skipping has been documented as a mechanism of rescuing an mRNA transcript containing mutations. In this study, we describe a mutation in a family with dystrophic epidermolysis bullosa consisting of a 16-bp deletion within exon 87 of the type VII collagen gene (COL7A1) and predicted to lead to a frameshift and downstream premature termination codon. Unexpectedly, mRNA analysis revealed instead that the intraexonic deletion led to skipping of exon 87 and subsequent restoration of the open reading frame. The phenotypes and patterns of inheritance observed in this family arise from three different mutations, all of which affect RNA processing. Restoration of open reading frame by exon skipping represents a previously undescribed mechanism of action of intraexonic deletion mutations.

M3 - Article

SP - 1483

EP - 1492

JO - Laboratory Investigation

JF - Laboratory Investigation

SN - 0023-6837

ER -

Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, Romero R, Salas-Alanis JC, Paller AS et al. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Laboratory Investigation. 1998 Dec 1;1483-1492.