MYO7A
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Use dmy dates|date=April 2022}}
{{Infobox_gene}}
Myosin VIIA is protein that in humans is encoded by the MYO7A gene.{{cite journal | vauthors = Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA | title = Mapping of unconventional myosins in mouse and human | journal = Genomics | volume = 36 | issue = 3 | pages = 431–9 | date = Sep 1996 | pmid = 8884266 | doi = 10.1006/geno.1996.0488 | doi-access = free }} Myosin VIIA is a member of the unconventional myosin superfamily of proteins.{{cite journal | vauthors = Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD | title = Defective myosin VIIA gene responsible for Usher syndrome type 1B | journal = Nature | volume = 374 | issue = 6517 | pages = 60–1 | date = Mar 1995 | pmid = 7870171 | doi = 10.1038/374060a0 | bibcode = 1995Natur.374...60W | s2cid = 4324416 }} Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.
Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. Myosin VIIA is an unconventional myosin with the longest tail (1360 aa). The tail is expected to dimerize, resulting in a two-headed molecule. Unconventional myosins have diverse functions in eukaryotic cells and are primarily thought to be involved in the movement or linkage of intra-cellular membranes and organelles to the actin cytoskeleton via interactions mediated by their highly divergent tail domains.
MYO7A is expressed in a number of mammalian tissues, including testis, kidney, lung, inner ear, retina and the ciliated epithelium of the nasal mucosa.
Clinical significance
Mutations in the MYO7A gene cause the Usher syndrome type 1B, a combined deafness/blindness disorder. Affected individuals are typically profoundly deaf at birth and then undergo progressive retinal degeneration.{{cite journal | vauthors = Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L | title = Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium | journal = American Journal of Medical Genetics | volume = 50 | issue = 1 | pages = 32–8 | date = Mar 1994 | pmid = 8160750 | doi = 10.1002/ajmg.1320500107 }}
Model organisms
Model organisms have been used in the study of MYO7A function. A spontaneous mutant mouse line, called Myo7ash1-6J{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:1860092 |title=Mouse Genome Informatics}} was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 | doi-access = free }} Twenty three tests were carried out on mutant mice and ten significant abnormalities were observed. Male homozygous mutant mice displayed a decreased body weight, a decrease in body fat, improved glucose tolerance and abnormal pelvic girdle bone morphology. Homozygous mutant mice of both sex displayed various abnormalities in a modified SHIRPA test, including abnormal gait, tail dragging and an absence of pinna reflex, a decrease in grip strength, an increased thermal pain threshold, severe hearing impairment and a number of abnormal indirect calorimetry and clinical chemistry parameters.
References
{{Reflist}}
External links
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher1 GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I]
- {{PDBe-KB2|Q13402|Human Unconventional myosin-VIIa}}
- {{PDBe-KB2|P97479|Mouse Unconventional myosin-VIIa}}
Further reading
{{refbegin | 2}}
- {{cite book | vauthors = Wolfrum U | chapter = The Cellular Function of the Usher Gene Product Myosin VIIa is Specified by Its Ligands | series = Advances in Experimental Medicine and Biology | date = 2003 | title = Retinal Degenerations | volume = 533 | pages = 133–42 | pmid = 15180257 | doi = 10.1007/978-1-4615-0067-4_17 | isbn = 978-1-4613-4909-9 | citeseerx = 10.1.1.501.2021 }}
- {{cite journal | vauthors = el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C | title = Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells | journal = Human Molecular Genetics | volume = 5 | issue = 8 | pages = 1171–8 | date = Aug 1996 | pmid = 8842737 | doi = 10.1093/hmg/5.8.1171 | doi-access = free }}
- {{cite journal | vauthors = Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B | title = Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins | journal = American Journal of Human Genetics | volume = 61 | issue = 4 | pages = 813–21 | date = Oct 1997 | pmid = 9382091 | pmc = 1716000 | doi = 10.1086/514899 }}
- {{cite journal | vauthors = Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD | title = Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome | journal = American Journal of Human Genetics | volume = 63 | issue = 3 | pages = 909–12 | date = Sep 1998 | pmid = 9718356 | pmc = 1377414 | doi = 10.1086/302026 }}
- {{cite journal | vauthors = Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA | title = Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11 | journal = Genomics | volume = 14 | issue = 4 | pages = 988–94 | date = Dec 1992 | pmid = 1478677 | doi = 10.1016/S0888-7543(05)80121-1 }}
- {{cite journal | vauthors = Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS | title = Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 92 | issue = 21 | pages = 9815–9 | date = Oct 1995 | pmid = 7568224 | pmc = 40893 | doi = 10.1073/pnas.92.21.9815 | bibcode = 1995PNAS...92.9815H | doi-access = free }}
- {{cite journal | vauthors = Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C | title = A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene | journal = Human Molecular Genetics | volume = 3 | issue = 6 | pages = 989–93 | date = Jun 1994 | pmid = 7951250 | doi = 10.1093/hmg/3.6.989 }}
- {{cite journal | vauthors = Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS | title = Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 14 | pages = 6549–53 | date = Jul 1994 | pmid = 8022818 | pmc = 44240 | doi = 10.1073/pnas.91.14.6549 | bibcode = 1994PNAS...91.6549B | doi-access = free }}
- {{cite journal | vauthors = Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C | title = Clinical findings in obligate carriers of type I Usher syndrome | journal = American Journal of Medical Genetics | volume = 59 | issue = 3 | pages = 375–9 | date = Nov 1995 | pmid = 8599365 | doi = 10.1002/ajmg.1320590319 | hdl = 2066/21703 | s2cid = 22357870 | hdl-access = free }}
- {{cite journal | vauthors = Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C | title = Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 93 | issue = 8 | pages = 3232–7 | date = Apr 1996 | pmid = 8622919 | pmc = 39588 | doi = 10.1073/pnas.93.8.3232 | bibcode = 1996PNAS...93.3232W | doi-access = free }}
- {{cite journal | vauthors = Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M | title = A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene | journal = Human Molecular Genetics | volume = 5 | issue = 6 | pages = 849–52 | date = Jun 1996 | pmid = 8776602 | doi = 10.1093/hmg/5.6.849 | doi-access = free }}
- {{cite journal | vauthors = Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, Mooseker MS, Corey DP | title = Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B | journal = Genomics | volume = 36 | issue = 3 | pages = 440–8 | date = Sep 1996 | pmid = 8884267 | doi = 10.1006/geno.1996.0489 | doi-access = free }}
- {{cite journal | vauthors = Weston MD, Kelley PM, Overbeck LD, Wagenaar M, Orten DJ, Hasson T, Chen ZY, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson SG, Gorin MB, Kimberling WJ | title = Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients | journal = American Journal of Human Genetics | volume = 59 | issue = 5 | pages = 1074–83 | date = Nov 1996 | pmid = 8900236 | pmc = 1914835 }}
- {{cite journal | vauthors = Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D | title = Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB | journal = Human Molecular Genetics | volume = 6 | issue = 1 | pages = 111–6 | date = Jan 1997 | pmid = 9002678 | doi = 10.1093/hmg/6.1.111 | doi-access = free }}
- {{cite journal | vauthors = Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ | title = The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A) | journal = Genomics | volume = 40 | issue = 1 | pages = 73–9 | date = Feb 1997 | pmid = 9070921 | doi = 10.1006/geno.1996.4545 | s2cid = 19026117 | doi-access = free }}
- {{cite journal | vauthors = Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD | title = Mutations in the myosin VIIA gene cause non-syndromic recessive deafness | journal = Nature Genetics | volume = 16 | issue = 2 | pages = 188–90 | date = Jun 1997 | pmid = 9171832 | doi = 10.1038/ng0697-188 | s2cid = 13506848 }}
- {{cite journal | vauthors = Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C | title = The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene | journal = Nature Genetics | volume = 16 | issue = 2 | pages = 191–3 | date = Jun 1997 | pmid = 9171833 | doi = 10.1038/ng0697-191 | s2cid = 23555323 }}
- {{cite journal | vauthors = Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD | title = Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene | journal = Nature Genetics | volume = 17 | issue = 3 | pages = 268–9 | date = Nov 1997 | pmid = 9354784 | doi = 10.1038/ng1197-268 | s2cid = 20566524 }}
{{refend}}{{Cytoskeletal proteins}}{{DEFAULTSORT:Myo7a}}