Encodes the entire 23.8kb Mhc gene, including approximately 450bp of upstream regulatory sequence. A A232T amino acid substitution has been introduced into the embryonic isoform. This change is equivalent to an A234T change in the orthologous human MYH3 gene, a variant associated with distal arthrogryposis type 2B.
G16770802A
A232T | Mhc-PA; A232T | Mhc-PB; A232T | Mhc-PC; A232T | Mhc-PD; A232T | Mhc-PE; A232T | Mhc-PF; A232T | Mhc-PG; A232T | Mhc-PH; A232T | Mhc-PI; A232T | Mhc-PK; A232T | Mhc-PL; A232T | Mhc-PM; A232T | Mhc-PN; A232T | Mhc-PO; A232T | Mhc-PP; A232T | Mhc-PQ; A232T | Mhc-PR; A232T | Mhc-PS; A232T | Mhc-PT; A232T | Mhc-PU; A232T | Mhc-PV
Analogous A234T mutation in human MYH3 implicated in distal arthrogryposis type 2B; mutation carried on in vitro construct.
Indirect flight muscles of MhcDA2B/MhcDA2B, Mhc10/Mhc10 organisms fail to assemble properly and worsen with age: In late-stage pupae, there are poorly formed myofibrils with abnormal filament packing, and M- and Z-lines are extremely distorted. In 2h-old adults, there are severe defects in packing and alignment of filaments, with remnants of M- and Z-lines diffused throughout the sarcomere. In 2-days old adults, thick and thin filaments are dispersed randomly throughout the myofibril.
Indirect flight muscles of MhcDA2B/+, Mhc10/+ organisms show abnormal myofibril morphology: In late-stage pupae there are small myofibrils that show some filament packing disruptions, and poorly-formed M- and Z-lines. In 2h-old adults, myofibrils show further disruption in thick and thin filament packing and M- and Z-lines are aberrant or absent. In 2d-old adults some myofibrils appear fused, with poorly ordered thick and thin filament arrays, and Z-lines are more closely spaced.