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Alpha-cardiac actin...
Alpha-cardiac actin mutations produce atrial septal defects.
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- Matsson, Hans (author)
- Karolinska Institutet,Uppsala universitet,Institutionen för genetik och patologi
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Eason, Jacqueline (author)
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Bookwalter, Carol S (author)
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- Klar, Joakim (author)
- Uppsala universitet,Institutionen för genetik och patologi
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Gustavsson, Peter (author)
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- Sunnegårdh, Jan, 1948 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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Enell, Henrik (author)
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- Jonzon, Anders (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Perinatal, neonatal och barnkardiologisk forskning/Jonzon
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Vikkula, Miikka (author)
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Gutierrez, Ilse (author)
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Granados-Riveron, Javier (author)
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Pope, Mark (author)
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Bu'Lock, Frances (author)
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Cox, Jane (author)
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Robinson, Thelma E (author)
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Song, Feifei (author)
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Brook, David J (author)
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Marston, Steven (author)
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Trybus, Kathleen M (author)
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- Dahl, Niklas (author)
- Uppsala universitet,Institutionen för genetik och patologi
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(creator_code:org_t)
- 2007-10-18
- 2008
- English.
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In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 17:2, s. 256-65
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely candidate. A mutation screen of the coding regions of ACTC1 revealed a founder mutation predicting an M123V substitution in affected individuals of both pedigrees. Functional analysis of ACTC1 with an M123V substitution shows a reduced affinity for myosin, but with retained actomyosin motor properties. We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. Morpholino (MO) knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a developmental role for this protein. The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Actins
- chemistry
- genetics
- metabolism
- Amino Acid Substitution
- Animals
- Chick Embryo
- Child
- Preschool
- Female
- Gene Deletion
- Heart
- embryology
- Heart Septal Defects
- Atrial
- genetics
- metabolism
- Humans
- Infant
- Male
- Mutagenesis
- Site-Directed
- Myosins
- metabolism
- Pedigree
- MEDICINE
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Matsson, Hans
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Eason, Jacquelin ...
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Bookwalter, Caro ...
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Klar, Joakim
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Gustavsson, Pete ...
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Sunnegårdh, Jan, ...
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show more...
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Enell, Henrik
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Jonzon, Anders
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Vikkula, Miikka
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Gutierrez, Ilse
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Granados-Riveron ...
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Pope, Mark
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Bu'Lock, Frances
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Cox, Jane
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Robinson, Thelma ...
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Song, Feifei
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Brook, David J
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Marston, Steven
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Trybus, Kathleen ...
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Dahl, Niklas
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human molecular ...
- By the university
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University of Gothenburg
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Uppsala University
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Karolinska Institutet