Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins
| Autor: | Rashmi Kothary, Silvia M. Vidal, Gilbert Bernier, De Repentigny Y, Martine Mathieu |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Gene isoform
Male Subfamily DNA Complementary Dystonin Molecular Sequence Data Nerve Tissue Proteins Biology Mice Gene expression Genetics Animals Actin-binding protein Amino Acid Sequence RNA Messenger Cloning Molecular Actin Mice Inbred BALB C Base Sequence Microfilament Proteins Chromosome Mapping Cell biology Cytoskeletal Proteins MACF1 biology.protein Carrier Proteins Binding domain |
| Zdroj: | Genomics. 38(1) |
| ISSN: | 0888-7543 |
| Popis: | We have recently cloned the gene responsible for the mouse neurological disorder dystonia musculorum. The predicted product of this gene, dystonin (Dst), is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin binding domain. Here we report on the cloning and characterization of mouse ACF7. Sequence analysis revealed extended homology of mACF7 with both the actin binding domain (ABD) and the Bpag1 portions of dystonin. Moreover, mACF7 and Dst display similar isoform diversity and encode similar sized transcripts in the nervous system. Phylogenetic analysis of mACF7 and dystonin ABD sequences suggests a recent evolutionary origin and that these proteins form a separate novel subfamily within the β-spectrin superfamily of actin binding proteins. Given the implication of several actin binding proteins in genetic disorders, it is important to know the pattern of mACF7 expression. mACF7 transcripts are detected principally in lung, brain, spinal cord, skeletal and cardiac muscle, and skin. Intriguingly, mACF7 expression in lung is strongly induced just before birth and is restricted to type II alveolar cells. To determine whether spontaneous mutants that may be defective in mACF7 exist, we have mapped the mACF7 gene to mouse chromosome 4. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect