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MYO7A

April 14, 2024

Myosin VIIA is protein that in humans is encoded by the MYO7A gene.[5] Myosin VIIA is a member of the unconventional myosin superfamily of proteins.[6] Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.

MYO7A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMYO7A, DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, myosin VIIA
External IDsOMIM: 276903 MGI: 104510 HomoloGene: 219 GeneCards: MYO7A
Orthologs
SpeciesHumanMouse
Entrez

4647

17921

Ensembl

ENSG00000137474

ENSMUSG00000030761

UniProt

Q13402

P97479

RefSeq (mRNA)

NM_000260
NM_001127179
NM_001127180
NM_001369365

NM_001256081
NM_001256082
NM_001256083
NM_008663

RefSeq (protein)

NP_000251
NP_001120652
NP_001356294

NP_001243010
NP_001243011
NP_001243012
NP_032689

Location (UCSC)Chr 11: 77.13 – 77.22 MbChr 7: 97.7 – 97.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 edit

Mutations in the MYO7A gene cause the Usher syndrome type 1B, a combined deafness/blindness disorder.[6] Affected individuals are typically profoundly deaf at birth and then undergo progressive retinal degeneration.[7]

Model organisms edit

Model organisms have been used in the study of MYO7A function. A spontaneous mutant mouse line, called Myo7ash1-6J[19] was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[17][20] Twenty three tests were carried out on mutant mice and ten significant abnormalities were observed.[17] 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.[17]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137474 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030761 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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 (September 1996). "Mapping of unconventional myosins in mouse and human". Genomics. 36 (3): 431–9. doi:10.1006/geno.1996.0488. PMID 8884266.
  6. ^ a b Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD (March 1995). "Defective myosin VIIA gene responsible for Usher syndrome type 1B". Nature. 374 (6517): 60–1. Bibcode:1995Natur.374...60W. doi:10.1038/374060a0. PMID 7870171. S2CID 4324416.
  7. ^ Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L (March 1994). "Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium". American Journal of Medical Genetics. 50 (1): 32–8. doi:10.1002/ajmg.1320500107. PMID 8160750.
  8. ^ "Body weight data for Myo7a". Wellcome Trust Sanger Institute.
  9. ^ "Neurological assessment data for Myo7a". Wellcome Trust Sanger Institute.
  10. ^ "Grip strength data for Myo7a". Wellcome Trust Sanger Institute.
  11. ^ "Hot plate data for Myo7a". Wellcome Trust Sanger Institute.
  12. ^ "Indirect calorimetry data for Myo7a". Wellcome Trust Sanger Institute.
  13. ^ "Glucose tolerance test data for Myo7a". Wellcome Trust Sanger Institute.
  14. ^ "DEXA data for Myo7a". Wellcome Trust Sanger Institute.
  15. ^ "Radiography data for Myo7a". Wellcome Trust Sanger Institute.
  16. ^ "Clinical chemistry data for Myo7a". Wellcome Trust Sanger Institute.
  17. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  18. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  19. ^ "Mouse Genome Informatics".
  20. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

External links edit

  • GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
  • Overview of all the structural information available in the PDB for UniProt: Q13402 (Human Unconventional myosin-VIIa) at the PDBe-KB.
  • Overview of all the structural information available in the PDB for UniProt: P97479 (Mouse Unconventional myosin-VIIa) at the PDBe-KB.

Further reading edit

  • Wolfrum U (2003). "The Cellular Function of the Usher Gene Product Myosin VIIa is Specified by Its Ligands". Retinal Degenerations. Advances in Experimental Medicine and Biology. Vol. 533. pp. 133–42. CiteSeerX 10.1.1.501.2021. doi:10.1007/978-1-4615-0067-4_17. ISBN 978-1-4613-4909-9. PMID 15180257.
  • el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C (August 1996). "Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells". Human Molecular Genetics. 5 (8): 1171–8. doi:10.1093/hmg/5.8.1171. PMID 8842737.
  • Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B (October 1997). "Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins". American Journal of Human Genetics. 61 (4): 813–21. doi:10.1086/514899. PMC 1716000. PMID 9382091.
  • Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD (September 1998). "Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome". American Journal of Human Genetics. 63 (3): 909–12. doi:10.1086/302026. PMC 1377414. PMID 9718356.
  • Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA (December 1992). "Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11". Genomics. 14 (4): 988–94. doi:10.1016/S0888-7543(05)80121-1. PMID 1478677.
  • Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS (October 1995). "Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B". Proceedings of the National Academy of Sciences of the United States of America. 92 (21): 9815–9. Bibcode:1995PNAS...92.9815H. doi:10.1073/pnas.92.21.9815. PMC 40893. PMID 7568224.
  • Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C (June 1994). "A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene". Human Molecular Genetics. 3 (6): 989–93. doi:10.1093/hmg/3.6.989. PMID 7951250.
  • Bement WM, Hasson T, Wirth JA, Cheney RE, Mooseker MS (July 1994). "Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types". Proceedings of the National Academy of Sciences of the United States of America. 91 (14): 6549–53. Bibcode:1994PNAS...91.6549B. doi:10.1073/pnas.91.14.6549. PMC 44240. PMID 8022818.
  • Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C (November 1995). "Clinical findings in obligate carriers of type I Usher syndrome". American Journal of Medical Genetics. 59 (3): 375–9. doi:10.1002/ajmg.1320590319. hdl:2066/21703. PMID 8599365. S2CID 22357870.
  • Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C (April 1996). "Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia". Proceedings of the National Academy of Sciences of the United States of America. 93 (8): 3232–7. Bibcode:1996PNAS...93.3232W. doi:10.1073/pnas.93.8.3232. PMC 39588. PMID 8622919.
  • Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M (June 1996). "A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene". Human Molecular Genetics. 5 (6): 849–52. doi:10.1093/hmg/5.6.849. PMID 8776602.
  • Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, Mooseker MS, Corey DP (September 1996). "Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B". Genomics. 36 (3): 440–8. doi:10.1006/geno.1996.0489. PMID 8884267.
  • 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 (November 1996). "Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients". American Journal of Human Genetics. 59 (5): 1074–83. PMC 1914835. PMID 8900236.
  • 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 (January 1997). "Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB". Human Molecular Genetics. 6 (1): 111–6. doi:10.1093/hmg/6.1.111. PMID 9002678.
  • 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 (February 1997). "The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)". Genomics. 40 (1): 73–9. doi:10.1006/geno.1996.4545. PMID 9070921. S2CID 19026117.
  • Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (June 1997). "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness". Nature Genetics. 16 (2): 188–90. doi:10.1038/ng0697-188. PMID 9171832. S2CID 13506848.
  • Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C (June 1997). "The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene". Nature Genetics. 16 (2): 191–3. doi:10.1038/ng0697-191. PMID 9171833. S2CID 23555323.
  • Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (November 1997). "Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene". Nature Genetics. 17 (3): 268–9. doi:10.1038/ng1197-268. PMID 9354784. S2CID 20566524.

April 14, 2024
myo7a, myosin, viia, protein, that, humans, encoded, gene, myosin, viia, member, unconventional, myosin, superfamily, proteins, myosins, actin, binding, molecular, motors, that, enzymatic, conversion, inorganic, phosphate, provide, energy, movement, available,. Myosin VIIA is protein that in humans is encoded by the MYO7A gene 5 Myosin VIIA is a member of the unconventional myosin superfamily of proteins 6 Myosins are actin binding molecular motors that use the enzymatic conversion of ATP ADP inorganic phosphate Pi to provide the energy for movement MYO7AAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes3PVLIdentifiersAliasesMYO7A DFNA11 DFNB2 MYOVIIA MYU7A NSRD2 USH1B myosin VIIAExternal IDsOMIM 276903 MGI 104510 HomoloGene 219 GeneCards MYO7AGene location Human Chr Chromosome 11 human 1 Band11q13 5Start77 128 246 bp 1 End77 215 241 bp 1 Gene location Mouse Chr Chromosome 7 mouse 2 Band7 E1 7 53 57 cMStart97 700 267 bp 2 End97 768 731 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inleft adrenal glandright lobe of liveranterior pituitaryspleenfrontal poleretinal pigment epitheliumplacentasural nervesubcutaneous adipose tissuebody of pancreasTop expressed infourth ventricleadrenal glandyolk sacretinal pigment epitheliumiristesticleutricleciliary bodyseminiferous tubulejejunumMore reference expression dataBioGPSn aGene ontologyMolecular functionnucleotide binding spectrin binding protein homodimerization activity protein domain specific binding ADP binding calmodulin binding microfilament motor activity protein binding actin binding cytoskeletal motor activity ATP binding microtubule motor activity microtubule binding actin filament binding protein containing complex binding protein N terminus bindingCellular componentcytosol photoreceptor inner segment melanosome photoreceptor outer segment stereocilium photoreceptor connecting cilium microvillus lysosomal membrane cell cortex apical plasma membrane myosin VII complex upper tip link density cytoskeleton myosin complex synapse cytoplasm stereocilium baseBiological processsensory perception inner ear receptor cell stereocilium organization pigment granule localization sensory perception of light stimulus post embryonic animal organ morphogenesis sensory perception of sound mechanoreceptor differentiation pigment granule transport auditory receptor cell stereocilium organization phagolysosome assembly inner ear auditory receptor cell differentiation cell projection organization equilibrioception inner ear morphogenesis eye photoreceptor cell development phagocytosis inner ear development inner ear receptor cell differentiation intracellular protein transport lysosome organization visual perception actin filament based movement microtubule based movementSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez464717921EnsemblENSG00000137474ENSMUSG00000030761UniProtQ13402P97479RefSeq mRNA NM 000260NM 001127179NM 001127180NM 001369365NM 001256081NM 001256082NM 001256083NM 008663RefSeq protein NP 000251NP 001120652NP 001356294NP 001243010NP 001243011NP 001243012NP 032689Location UCSC Chr 11 77 13 77 22 MbChr 7 97 7 97 77 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseMyosins 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 Contents 1 Clinical significance 2 Model organisms 3 References 4 External links 5 Further readingClinical significance editMutations in the MYO7A gene cause the Usher syndrome type 1B a combined deafness blindness disorder 6 Affected individuals are typically profoundly deaf at birth and then undergo progressive retinal degeneration 7 Model organisms editMyo7a mutant mouse phenotype Characteristic PhenotypeHomozygote viability NormalFertility NormalBody weight Abnormal 8 Anxiety NormalNeurological assessment Abnormal 9 Grip strength Abnormal 10 Hot plate Abnormal 11 Dysmorphology NormalIndirect calorimetry Abnormal 12 Glucose tolerance test Abnormal 13 Auditory brainstem response AbnormalDEXA Abnormal 14 Radiography Abnormal 15 Body temperature NormalEye morphology NormalClinical chemistry Abnormal 16 Plasma immunoglobulins NormalHaematology NormalPeripheral blood lymphocytes NormalMicronucleus test NormalHeart weight NormalTail epidermis wholemount NormalSkin Histopathology NormalAll tests and analysis from 17 18 Model organisms have been used in the study of MYO7A function A spontaneous mutant mouse line called Myo7ash1 6J 19 was generated Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion 17 20 Twenty three tests were carried out on mutant mice and ten significant abnormalities were observed 17 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 17 References edit a b c GRCh38 Ensembl release 89 ENSG00000137474 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000030761 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 September 1996 Mapping of unconventional myosins in mouse and human Genomics 36 3 431 9 doi 10 1006 geno 1996 0488 PMID 8884266 a b Weil D Blanchard S Kaplan J Guilford P Gibson F Walsh J Mburu P Varela A Levilliers J Weston MD March 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B Nature 374 6517 60 1 Bibcode 1995Natur 374 60W doi 10 1038 374060a0 PMID 7870171 S2CID 4324416 Smith RJ Berlin CI Hejtmancik JF Keats BJ Kimberling WJ Lewis RA Moller CG Pelias MZ Tranebjaerg L March 1994 Clinical diagnosis of the Usher syndromes Usher Syndrome Consortium American Journal of Medical Genetics 50 1 32 8 doi 10 1002 ajmg 1320500107 PMID 8160750 Body weight data for Myo7a Wellcome Trust Sanger Institute Neurological assessment data for Myo7a Wellcome Trust Sanger Institute Grip strength data for Myo7a Wellcome Trust Sanger Institute Hot plate data for Myo7a Wellcome Trust Sanger Institute Indirect calorimetry data for Myo7a Wellcome Trust Sanger Institute Glucose tolerance test data for Myo7a Wellcome Trust Sanger Institute DEXA data for Myo7a Wellcome Trust Sanger Institute Radiography data for Myo7a Wellcome Trust Sanger Institute Clinical chemistry data for Myo7a Wellcome Trust Sanger Institute a b c d Gerdin AK 2010 The Sanger Mouse Genetics Programme High throughput characterisation of knockout mice Acta Ophthalmologica 88 925 7 doi 10 1111 j 1755 3768 2010 4142 x S2CID 85911512 Mouse Resources Portal Wellcome Trust Sanger Institute Mouse Genome Informatics van der Weyden L White JK Adams DJ Logan DW 2011 The mouse genetics toolkit revealing function and mechanism Genome Biology 12 6 224 doi 10 1186 gb 2011 12 6 224 PMC 3218837 PMID 21722353 External links editGeneReviews NCBI NIH UW entry on Usher Syndrome Type I Overview of all the structural information available in the PDB for UniProt Q13402 Human Unconventional myosin VIIa at the PDBe KB Overview of all the structural information available in the PDB for UniProt P97479 Mouse Unconventional myosin VIIa at the PDBe KB Further reading editWolfrum U 2003 The Cellular Function of the Usher Gene Product Myosin VIIa is Specified by Its Ligands Retinal Degenerations Advances in Experimental Medicine and Biology Vol 533 pp 133 42 CiteSeerX 10 1 1 501 2021 doi 10 1007 978 1 4615 0067 4 17 ISBN 978 1 4613 4909 9 PMID 15180257 el Amraoui A Sahly I Picaud S Sahel J Abitbol M Petit C August 1996 Human Usher 1B mouse shaker 1 the retinal phenotype discrepancy explained by the presence absence of myosin VIIA in the photoreceptor cells Human Molecular Genetics 5 8 1171 8 doi 10 1093 hmg 5 8 1171 PMID 8842737 Adato A Weil D Kalinski H Pel Or Y Ayadi H Petit C Korostishevsky M Bonne Tamir B October 1997 Mutation profile of all 49 exons of the human myosin VIIA gene and haplotype analysis in Usher 1B families from diverse origins American Journal of Human Genetics 61 4 813 21 doi 10 1086 514899 PMC 1716000 PMID 9382091 Liu XZ Hope C Walsh J Newton V Ke XM Liang CY Xu LR Zhou JM Trump D Steel KP Bundey S Brown SD September 1998 Mutations in the myosin VIIA gene cause a wide phenotypic spectrum including atypical Usher syndrome American Journal of Human Genetics 63 3 909 12 doi 10 1086 302026 PMC 1377414 PMID 9718356 Kimberling WJ Moller CG Davenport S Priluck IA Beighton PH Greenberg J Reardon W Weston MD Kenyon JB Grunkemeyer JA December 1992 Linkage of Usher syndrome type I gene USH1B to the long arm of chromosome 11 Genomics 14 4 988 94 doi 10 1016 S0888 7543 05 80121 1 PMID 1478677 Hasson T Heintzelman MB Santos Sacchi J Corey DP Mooseker MS October 1995 Expression in cochlea and retina of myosin VIIa the gene product defective in Usher syndrome type 1B Proceedings of the National Academy of Sciences of the United States of America 92 21 9815 9 Bibcode 1995PNAS 92 9815H doi 10 1073 pnas 92 21 9815 PMC 40893 PMID 7568224 Guilford P Ayadi H Blanchard S Chaib H Le Paslier D Weissenbach J Drira M Petit C June 1994 A human gene responsible for neurosensory non syndromic recessive deafness is a candidate homologue of the mouse sh 1 gene Human Molecular Genetics 3 6 989 93 doi 10 1093 hmg 3 6 989 PMID 7951250 Bement WM Hasson T Wirth JA Cheney RE Mooseker MS July 1994 Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types Proceedings of the National Academy of Sciences of the United States of America 91 14 6549 53 Bibcode 1994PNAS 91 6549B doi 10 1073 pnas 91 14 6549 PMC 44240 PMID 8022818 Wagenaar M ter Rahe B van Aarem A Huygen P Admiraal R Bleeker Wagemakers E Pinckers A Kimberling W Cremers C November 1995 Clinical findings in obligate carriers of type I Usher syndrome American Journal of Medical Genetics 59 3 375 9 doi 10 1002 ajmg 1320590319 hdl 2066 21703 PMID 8599365 S2CID 22357870 Weil D Levy G Sahly I Levi Acobas F Blanchard S El Amraoui A Crozet F Philippe H Abitbol M Petit C April 1996 Human myosin VIIA responsible for the Usher 1B syndrome a predicted membrane associated motor protein expressed in developing sensory epithelia Proceedings of the National Academy of Sciences of the United States of America 93 8 3232 7 Bibcode 1996PNAS 93 3232W doi 10 1073 pnas 93 8 3232 PMC 39588 PMID 8622919 Tamagawa Y Kitamura K Ishida T Ishikawa K Tanaka H Tsuji S Nishizawa M June 1996 A gene for a dominant form of non syndromic sensorineural deafness DFNA11 maps within the region containing the DFNB2 recessive deafness gene Human Molecular Genetics 5 6 849 52 doi 10 1093 hmg 5 6 849 PMID 8776602 Chen ZY Hasson T Kelley PM Schwender BJ Schwartz MF Ramakrishnan M Kimberling WJ Mooseker MS Corey DP September 1996 Molecular cloning and domain structure of human myosin VIIa the gene product defective in Usher syndrome 1B Genomics 36 3 440 8 doi 10 1006 geno 1996 0489 PMID 8884267 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 November 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients American Journal of Human Genetics 59 5 1074 83 PMC 1914835 PMID 8900236 Levy 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 January 1997 Myosin VIIA gene heterogeneity of the mutations responsible for Usher syndrome type IB Human Molecular Genetics 6 1 111 6 doi 10 1093 hmg 6 1 111 PMID 9002678 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 February 1997 The genomic structure of the gene defective in Usher syndrome type Ib MYO7A Genomics 40 1 73 9 doi 10 1006 geno 1996 4545 PMID 9070921 S2CID 19026117 Liu XZ Walsh J Mburu P Kendrick Jones J Cope MJ Steel KP Brown SD June 1997 Mutations in the myosin VIIA gene cause non syndromic recessive deafness Nature Genetics 16 2 188 90 doi 10 1038 ng0697 188 PMID 9171832 S2CID 13506848 Weil D Kussel P Blanchard S Levy G Levi Acobas F Drira M Ayadi H Petit C June 1997 The autosomal recessive isolated deafness DFNB2 and the Usher 1B syndrome are allelic defects of the myosin VIIA gene Nature Genetics 16 2 191 3 doi 10 1038 ng0697 191 PMID 9171833 S2CID 23555323 Liu XZ Walsh J Tamagawa Y Kitamura K Nishizawa M Steel KP Brown SD November 1997 Autosomal dominant non syndromic deafness caused by a mutation in the myosin VIIA gene Nature Genetics 17 3 268 9 doi 10 1038 ng1197 268 PMID 9354784 S2CID 20566524 Retrieved from https en wikipedia org w index php title MYO7A amp oldid 1187729330, wikipedia, wiki, book, books, library,

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