("Knock-In Mice with Myo3a
Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear") report that Myo3a
kinase domain Y137C mutant mice have an elevated hearing threshold, degenerated inner ear HCs, and structural abnormality in HCs stereocilia after 6 months of age, thus Myo3a
is essential for maintaining the intact structure of HC and normal hearing function.
CISD2 3 1 1 0 OTOGL 58 0 34 0 Watch list: low GC-can be problematic MYO6 34 0 27 0 Watch list: low GC-can be problematic GPR98 90 0 24 0 Watch list: low GC-can be problematic MYO3A
33 0 18 0 Watch list: low GC-can be problematic HSD17B4 26 0 13 0 Watch list: low GC-can be problematic PCDH15 39 0 12 0 Watch list: low GC-can be problematic RDX 14 0 10 0 Watch list: low GC-can be problematic SERPINB6 9 0 1 1 Watch list: high GC-can be problematic GIPC3 6 0 0 1 Watch list: high GC-can be problematic KCNQ1 17 0 0 1 Watch list: high GC-can be problematic P2RX2 10 0 0 1 Watch list: high GC-can be problematic TMIE 4 0 0 1 Watch list: high GC-can be problematic Table 3.
Ilk gruptaki MYO3A
, CA10, NKX6-2 ve DBC1 veya SOX11'in mesane kanserini saptamadaki duyarliligi %81 ve ozgullugu %97 iken MYO3A
, CA10, NKX6-2 ve DBC1 veya PENK iceren ikinci grupta duyarliligi %85, ozgullugu %95 olarak bulunmustur.
Other significantly mutated single genes reported in TNBC include: USH2A, myosin IIIA (MYO3A), PTEN, retinoblastoma 1 (RB1), ataxia telangiectasia and Rad3 related (ATR), ubiquitin protein ligase E3 component n-recognin 1 (UBR1), collagen, type VI, alpha 3 (COL6A3), and several well-known oncogenes [v-raf murine sarcoma viral oncogene homolog B (BRAF), neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2), and v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 (ERBB3)] (18,42,58).
No single gene was mutated at >5% prevalence, with the exception of MYO3A; however, the gene family and biological process was significantly overrepresented.
In mammals, Myo3a is mainly expressed in the retina  and cochlea [13, 14].
Myo3a mutant mice were generated using the CRISPR-Cas9 genome-editing technology and maintained on the CBA/CaJ background.
The genomic DNA fragment around the gRNA target site was amplified by PCR using the Myo3a forward primer 5' -AGCTGTGACCTTTTTGAAGATAGC-3' and the Myo3a reverse primer 5' -ATCAACAAACACCAAGCTG CC-3'.
Myo3a mutant mice were compared with their wild-type littermates at each age.
The cochleae from Myo3a mutant and wild-type mice were removed, fixed with 4% formaldehyde in 10 mM phosphate buffer at 4[degrees]C overnight, decalcified in 10% EDTA in 10 mM phosphate-buffered saline (PBS) at room temperature for 2 d, dehydrated with 30% to 100% ethanol series, and treated with xylene for transparency.
Wild-type and Myo3a mutant mice were anesthetized with 0.007 g/mL pentobarbital sodium.
Myo3a mutant mice and wild-type mice were anesthetized using pentobarbital sodium and perfused with 4% PFA.