Transcriptional Pausing and Activation at Exons-1 and -2, Respectively, Mediate the Gene Expression in Human Glioblastoma Cells.

The therapeutically important DNA repair gene O-methylguanine DNA methyltransferase () is silenced by promoter methylation in human brain cancers. The co-players/regulators associated with this process and the subsequent progression of gene transcription beyond the non-coding exon 1 are unknown. As a follow-up to our recent finding of a predicted second promoter mapped proximal to the exon 2 [, (5), 2492], we addressed its significance in transcription.

Genomic Space of in Human Glioma Revisited: Novel Motifs, Regulatory RNAs, NRF1, 2, and CTCF Involvement in Gene Expression.

Background: The molecular regulation of increased expression in human brain tumors, the associated regulatory elements, and linkages of these to its epigenetic silencing are not understood. Because the heightened expression or non-expression of plays a pivotal role in glioma therapeutics, we applied bioinformatics and experimental tools to identify the regulatory elements in the and neighboring gene loci.

Results: Extensive genome database analyses showed that the MGMT genomic space was rich in and harbored many undescribed RNA regulatory sequences and recognition motifs.

Unexplored regulatory sequences of divergently paired and loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter.

Fabry disease (FD) is a rare hereditary disorder characterized by a wide range of symptoms caused by a variety of mutations in the galactosidase α () gene. The heterogeneous nuclear ribonucleoprotein () gene is divergently paired with on chromosome X and is thought to be implicated in FD. However, insufficient information is available on the regulatory mechanisms associated with the expression of and the loci.

Multifaceted roles of 5'-regulatory region of the cancer associated gene B4GALT1 and its comparison with the gene family.

β1,4-Galactosylransferases are a family of enzymes encoded by seven B4GALT genes and are involved in the development of anticancer drug resistance and metastasis. Among these genes, the B4GALT1 shows significant variations in the transcript origination sites in different cell types/tissues and encodes an interesting dually partitioning β-1, 4-galactosyltransferase protein. We identified at 5'-end of B4GALT1 a 1.