MLL encodes a histone methyltransferase that is critical in maintaining gene expression during embryonic development and hematopoiesis. 11q23 translocations result in the formation of chimeric MLL fusion proteins that act as potent drivers of acute leukemia. However, it remains unclear what portion of the leukemic genome is under the direct control of MLL fusions. By comparing patient-derived l...

Primary open angle glaucoma (POAG) belonging to a group of optic neuropathies, result from interaction between genetic and environmental factors. Study of associations with quantitative traits (QTs) is one of the successful strategies to understand the complex genetics of POAG. The current study attempts to explore the association of variations near/in genes like ATOH7, SIX1/SIX6 complex, CDKN2...

Burkitt’s lymphoma cell line BJAB-LexR that has been made naturally resistant to TRAIL through long-term culture in the presence of increasing concentrations of the drug Lexatumumab, an anti-DR5 antibody, as well as BJAB cells with Six1 overexpression. Performing experiments in both these contexts would allow us to distinguish between resistance genes that arise spontaneously versus resistance ...

As a critical transcription factor, Six1 plays an important role in the regulation of myogenesis and muscle development. However, little is known about its regulatory mechanism associated with muscular protein synthesis. The objective of this study was to investigate the effects of overexpression ofSix1 on the expression of key protein metabolism-related genes in duck myoblasts. Through an expe...

Myogenin, one of the MyoD family of proteins, is expressed early during somitogenesis and is required for myoblast fusion in vivo. Previous studies in transgenic mice have shown that a 184-bp myogenin promoter fragment is sufficient to correctly drive expression of a beta-galactosidase transgene during embryogenesis. We show here that mutation of one of the DNA motifs present in this region, th...

The inner ear develops from a simple epithelial vesicle that gives rise to the sensory hair cells, neuroblasts, secretory cells and other non-sensory tissue of the inner ear. In the zebrafish embryo, sensory hair cells begin to differentiate at the anterior and posterior ends of the otic vesicle, forming two distinct and separate sensory patches or maculae. Otic neuroblasts arise from an antero...

BACKGROUND Branchio-oto-renal (BOR) or branchio-otic (BO) syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. METHODS The audiologic...

The inner ear develops from a simple epithelial vesicle that gives rise to the sensory hair cells, neuroblasts, secretory cells and other non-sensory tissue of the inner ear. In the zebrafish embryo, sensory hair cells begin to differentiate at the anterior and posterior ends of the otic vesicle, forming two distinct and separate sensory patches or maculae. Otic neuroblasts arise from an antero...