Play Video
1
You need a Coach
You need a Coach
::2013/08/12::
Play Video
2
Langtree - One man, One dream
Langtree - One man, One dream
::2009/01/04::
NEXT >>
RESULTS [3 .. 53]
From Wikipedia, the free encyclopedia
Jump to: navigation, search
Myosin VIIA
Identifiers
Symbols MYO7A ; DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B
External IDs OMIM276903 MGI104510 HomoloGene219 GeneCards: MYO7A Gene
Orthologs
Species Human Mouse
Entrez 4647 17921
Ensembl ENSG00000137474 ENSMUSG00000030761
UniProt Q13402 P97479
RefSeq (mRNA) NM_000260 NM_001256081
RefSeq (protein) NP_000251 NP_001243010
Location (UCSC) Chr 11:
76.84 – 76.93 Mb
Chr 7:
98.05 – 98.12 Mb
PubMed search [1] [2]

Myosin VIIA is protein that in humans is encoded by the MYO7A gene.[1] Myosin VIIA is a member of the unconventional myosin superfamily of proteins.[2] 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 a very short tail. 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.[2]

Model organisms[edit]

Model organisms have been used in the study of MYO7A function. A spontaneous mutant mouse line, called Myo7ash1-6J[14] was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][15] Twenty three tests were carried out on mutant mice and ten significant abnormalities were observed.[12] 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.[12]

References[edit]

  1. ^ 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. 
  2. ^ 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. doi:10.1038/374060a0. PMID 7870171. 
  3. ^ "Body weight data for Myo7a". Wellcome Trust Sanger Institute. 
  4. ^ "Neurological assessment data for Myo7a". Wellcome Trust Sanger Institute. 
  5. ^ "Grip strength data for Myo7a". Wellcome Trust Sanger Institute. 
  6. ^ "Hot plate data for Myo7a". Wellcome Trust Sanger Institute. 
  7. ^ "Indirect calorimetry data for Myo7a". Wellcome Trust Sanger Institute. 
  8. ^ "Glucose tolerance test data for Myo7a". Wellcome Trust Sanger Institute. 
  9. ^ "DEXA data for Myo7a". Wellcome Trust Sanger Institute. 
  10. ^ "Radiography data for Myo7a". Wellcome Trust Sanger Institute. 
  11. ^ "Clinical chemistry data for Myo7a". Wellcome Trust Sanger Institute. 
  12. ^ 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. 
  13. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. ^ "Mouse Genome Informatics". 
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

External links[edit]

Further reading[edit]

Wikipedia content is licensed under the GFDL License
Powered by YouTube
LEGAL
  • Mashpedia © 2014