Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

Zheng Yi Chen, Tama Hasson, Philip M. Kelley, Brian J. Schwender, Marc F. Schwartz, Meena Ramakrishnan, William J. Kimberling, Mark S. Mooseker, David P. Corey

Research output: Contribution to journalArticle

108 Scopus citations

Abstract

Myosin-VIIa is an unconventional myosin with relatively restricted expression. Cloned first from an intestinal epithelium cell line, it occurs most notably in the testis, in the receptor cells of the inner ear, and in the pigment epithelium of the retina. Defects in myosin-VIIa cause the shaker-1 phenotype in mice and Usher syndrome 1B in human, which are characterized by deafness, lack of vestibular function, and (in human) progressive retinal degeneration. Because the described cDNAs encode less than half of the protein predicted from immunoblots, we have cloned cDNAs encoding the rest of human myosin-VIIa. Two transcripts were found, one encoding the predicted 250-kDa protein and another encoding a shorter form. Both transcripts were found in highest abundance in testis, although the shorter transcript was much less abundant. Both could be detected in lymphocytes by RT-PCR. The myosin tail encoded by the long transcript includes a long repeat of ~460 amine acids. Each repeat contains a novel 'MYTH4' domain similar to domains in three other myosins, and a domain similar to the membrane-associated portion of talin and other members of the band-4.1 family.

Original languageEnglish (US)
Pages (from-to)440-448
Number of pages9
JournalGenomics
Volume36
Issue number3
DOIs
StatePublished - Sep 15 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B'. Together they form a unique fingerprint.

  • Cite this

    Chen, Z. Y., Hasson, T., Kelley, P. M., Schwender, B. J., Schwartz, M. F., Ramakrishnan, M., Kimberling, W. J., Mooseker, M. S., & Corey, D. P. (1996). Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics, 36(3), 440-448. https://doi.org/10.1006/geno.1996.0489