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Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

Marigo, Valeria, Nigro, Alessandra, Pecci, Alessandro, Montanaro, Donatella, Di Stazio, Mariateresa, Balduini, Carlo L., Savoia, Anna·2004·Genomics
DOI 10.1016/j.ygeno.2003.12.012
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Abstract

Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness, cataracts, and renal failure. Since another two highly conserved nonmuscle myosins, II-B and II-C, are known, an analysis of their tissue distribution is fundamental for the understanding of their biological roles. In mouse, we found that all forms are ubiquitously expressed. However, megakaryocytic and granulocytic lineages express only II-A, suggesting that congenital features, macrothrombocytopenia, and leukocyte inclusions correlate with its exclusive presence. In kidney, eye, and ear, where clinical manifestations have a late onset, as well as in other tissues apparently not affected in patients, II-A and at least one of the other two isoforms are expressed, suggesting that II-B and II-C can partially compensate for each other. We hypothesize that cells expressing only II-A manifest the congenital defects, while tissues expressing additional myosin II isoforms show either late onset of abnormalities or no pathological sign.

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Cited by

Metadata

Authors
Marigo, V., Nigro, A., Pecci, A., Montanaro, D., Di Stazio, M., Balduini, C. L., & Savoia, A.
Venue
Genomics
Publisher
Elsevier BV
Published
2004-06
Volume
83
Issue
6
Pages
1125-1133
ISSN
0888-7543
DOI
10.1016/j.ygeno.2003.12.012
Cited by
64
References
0
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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