G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

Irina N. Bespalova; Michael Pranzatelli; Margit Burmeister

doi:10.1016/S1383-5726(97)00010-1

G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

Irina N. Bespalova, Michael Pranzatelli, Margit Burmeister

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

11 Scopus citations

Abstract

Several mutations have been described in the proteinase inhibitor cystatin B gene from individuals affected with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1). One of these mutations, a 1925G → C transition at the 3'-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a primary transcript of the cystatin B gene in EPMI patients. In an effort to understand the expression of the 1925G → C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT- PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.

Original language	English
Pages (from-to)	67-74
Number of pages	8
Journal	Mutation Research - Mutation Research Genomics
Volume	382
Issue number	1-2
DOIs	https://doi.org/10.1016/S1383-5726(97)00010-1
State	Published - Sep 1997
Externally published	Yes

Keywords

Cystatin B
Exon skipping
RNA splicing
Transversion

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10.1016/S1383-5726(97)00010-1

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@article{5125f71ed7cb4a2cb0d8d7e0f8089eb7,

title = "G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene",

abstract = "Several mutations have been described in the proteinase inhibitor cystatin B gene from individuals affected with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1). One of these mutations, a 1925G → C transition at the 3'-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a primary transcript of the cystatin B gene in EPMI patients. In an effort to understand the expression of the 1925G → C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT- PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.",

keywords = "Cystatin B, Exon skipping, RNA splicing, Transversion",

author = "Bespalova, {Irina N.} and Michael Pranzatelli and Margit Burmeister",

note = "Funding Information: We thank the EPM1 patients and their families for their participation in these studies, the General Clinical Research Center of the University of Michigan (funded by M01-RR00042) for EBV transformation of blood, the Family Studies Core of the University of Michigan Human Genome Center (HG00209) for facilitating patient recruitment and Linda Harper for growing and maintaining cell lines. We thank the DNA sequencing group of the University of Michigan for automatic DNA sequencing. This work was supported by grants to M.B. from the Epilepsy Foundation of America and a Klingenstein Foundation Fellowship, and the National Institutes of Health (NS32130). ",

year = "1997",

month = sep,

doi = "10.1016/S1383-5726(97)00010-1",

language = "English",

volume = "382",

pages = "67--74",

journal = "Mutation Research - Mutation Research Genomics",

issn = "1383-5726",

publisher = "Elsevier B.V.",

number = "1-2",

}

TY - JOUR

T1 - G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

AU - Bespalova, Irina N.

AU - Pranzatelli, Michael

AU - Burmeister, Margit

N1 - Funding Information: We thank the EPM1 patients and their families for their participation in these studies, the General Clinical Research Center of the University of Michigan (funded by M01-RR00042) for EBV transformation of blood, the Family Studies Core of the University of Michigan Human Genome Center (HG00209) for facilitating patient recruitment and Linda Harper for growing and maintaining cell lines. We thank the DNA sequencing group of the University of Michigan for automatic DNA sequencing. This work was supported by grants to M.B. from the Epilepsy Foundation of America and a Klingenstein Foundation Fellowship, and the National Institutes of Health (NS32130).

PY - 1997/9

Y1 - 1997/9

N2 - Several mutations have been described in the proteinase inhibitor cystatin B gene from individuals affected with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1). One of these mutations, a 1925G → C transition at the 3'-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a primary transcript of the cystatin B gene in EPMI patients. In an effort to understand the expression of the 1925G → C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT- PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.

AB - Several mutations have been described in the proteinase inhibitor cystatin B gene from individuals affected with progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1). One of these mutations, a 1925G → C transition at the 3'-splice acceptor site of the intron 1, was postulated to lead to inappropriate splicing of a primary transcript of the cystatin B gene in EPMI patients. In an effort to understand the expression of the 1925G → C mutation, the sequence of cystatin B mRNA transcripts from lymphoblastoid cell lines of heterozygous patients carrying the mutation were analyzed. RT- PCR of total mRNA showed two main products: the apparently normal transcript and an aberrant, 102 bp shorter transcript. Direct PCR sequencing showed that the aberrant transcript is a consequence of exon 2 skipping.

KW - Cystatin B

KW - Exon skipping

KW - RNA splicing

KW - Transversion

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U2 - 10.1016/S1383-5726(97)00010-1

DO - 10.1016/S1383-5726(97)00010-1

M3 - Article

C2 - 9360639

AN - SCOPUS:0031224914

SN - 1383-5726

VL - 382

SP - 67

EP - 74

JO - Mutation Research - Mutation Research Genomics

JF - Mutation Research - Mutation Research Genomics

IS - 1-2

ER -

G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene

Abstract

Keywords

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