A cluster of mutations within a short triplet repeat in the C1 inhibitor gene

John Bissler, Marco Cicardi, Virginia H. Donaldson, Paul A. Gatenby, Fred S. Rosen, Albert L. Sheffer, Alvin E. Davis

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were discovered to have mutations clustered within a 12-bp segment of exon 5 from nucleotide 8449 to nucleotide 8460. This short segment of DNA contains three direct repeats of the triplet CAA and is immediately preceded by a similar adenosine-rich sequence (CAAGAACAC). These triplet repeats make this region susceptible to mutation by a slipped mispairing mechanism. There are two other short triplet repeat elements in the coding region for this gene, but they have not become mutated in any kindred examined. This suggests that the apparent enhanced mutation rate in this region of exon 5 may be influenced by DNA structural characteristics.

Original languageEnglish (US)
Pages (from-to)9622-9625
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume91
Issue number20
DOIs
StatePublished - Sep 27 1994

Fingerprint

Trinucleotide Repeats
Mutation
Exons
Nucleotides
Complement C1 Inhibitor Protein
Hereditary Angioedemas
Genes
Nucleic Acid Repetitive Sequences
DNA
Mutation Rate
Adenosine
Edema
Morbidity

All Science Journal Classification (ASJC) codes

  • General

Cite this

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene. / Bissler, John; Cicardi, Marco; Donaldson, Virginia H.; Gatenby, Paul A.; Rosen, Fred S.; Sheffer, Albert L.; Davis, Alvin E.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 91, No. 20, 27.09.1994, p. 9622-9625.

Research output: Contribution to journalArticle

Bissler, John ; Cicardi, Marco ; Donaldson, Virginia H. ; Gatenby, Paul A. ; Rosen, Fred S. ; Sheffer, Albert L. ; Davis, Alvin E. / A cluster of mutations within a short triplet repeat in the C1 inhibitor gene. In: Proceedings of the National Academy of Sciences of the United States of America. 1994 ; Vol. 91, No. 20. pp. 9622-9625.
@article{3818d41217c04c4ab84c2eab58c5236c,
title = "A cluster of mutations within a short triplet repeat in the C1 inhibitor gene",
abstract = "Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were discovered to have mutations clustered within a 12-bp segment of exon 5 from nucleotide 8449 to nucleotide 8460. This short segment of DNA contains three direct repeats of the triplet CAA and is immediately preceded by a similar adenosine-rich sequence (CAAGAACAC). These triplet repeats make this region susceptible to mutation by a slipped mispairing mechanism. There are two other short triplet repeat elements in the coding region for this gene, but they have not become mutated in any kindred examined. This suggests that the apparent enhanced mutation rate in this region of exon 5 may be influenced by DNA structural characteristics.",
author = "John Bissler and Marco Cicardi and Donaldson, {Virginia H.} and Gatenby, {Paul A.} and Rosen, {Fred S.} and Sheffer, {Albert L.} and Davis, {Alvin E.}",
year = "1994",
month = "9",
day = "27",
doi = "10.1073/pnas.91.20.9622",
language = "English (US)",
volume = "91",
pages = "9622--9625",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "20",

}

TY - JOUR

T1 - A cluster of mutations within a short triplet repeat in the C1 inhibitor gene

AU - Bissler, John

AU - Cicardi, Marco

AU - Donaldson, Virginia H.

AU - Gatenby, Paul A.

AU - Rosen, Fred S.

AU - Sheffer, Albert L.

AU - Davis, Alvin E.

PY - 1994/9/27

Y1 - 1994/9/27

N2 - Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were discovered to have mutations clustered within a 12-bp segment of exon 5 from nucleotide 8449 to nucleotide 8460. This short segment of DNA contains three direct repeats of the triplet CAA and is immediately preceded by a similar adenosine-rich sequence (CAAGAACAC). These triplet repeats make this region susceptible to mutation by a slipped mispairing mechanism. There are two other short triplet repeat elements in the coding region for this gene, but they have not become mutated in any kindred examined. This suggests that the apparent enhanced mutation rate in this region of exon 5 may be influenced by DNA structural characteristics.

AB - Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were discovered to have mutations clustered within a 12-bp segment of exon 5 from nucleotide 8449 to nucleotide 8460. This short segment of DNA contains three direct repeats of the triplet CAA and is immediately preceded by a similar adenosine-rich sequence (CAAGAACAC). These triplet repeats make this region susceptible to mutation by a slipped mispairing mechanism. There are two other short triplet repeat elements in the coding region for this gene, but they have not become mutated in any kindred examined. This suggests that the apparent enhanced mutation rate in this region of exon 5 may be influenced by DNA structural characteristics.

UR - http://www.scopus.com/inward/record.url?scp=0027981166&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027981166&partnerID=8YFLogxK

U2 - 10.1073/pnas.91.20.9622

DO - 10.1073/pnas.91.20.9622

M3 - Article

VL - 91

SP - 9622

EP - 9625

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

IS - 20

ER -