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We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H..The identification of multiple patients with the same genetic defect and characteristic clinical phenotype, confirms our suggestion that this is a syndromic disorder caused by haploinsufficiency or heterozygous loss of function of CHD8.
present observation and published data suggest that phenotype present in patients with duplication of 14q11.2 region, encompassing the SUPT16H and CHD8 genes, resemble in some extend features described in cases carrying microdeletion of that genomic region
FACT is required for TOP1 binding to H3K4me3 at non-B DNA containing chromatin for the site-specific cleavage.
In the absence of FACT complex, SSRP1 and SPT16 mRNAs are unstable and inefficiently translated, making reactivation of FACT function unlikely in normal cells.
SUPT16H and RNF40 are required for proper DNA end resection and timely DNA repair after double-strand breaks.
facilitates RNA polymerase II driven transcription by destabilizing nucleosomal structure so that one histone H2A-H2B dimer is removed during enzyme passage; possesses intrinsic histone chaperone activity and can deposit core histones onto DNA
Results demonstrate that elongation by RNA polymerase II through the nucleosomal barrier is minimally dependent upon (1) FACT and (2) the recruitment of PAF and the H2B monoubiquitination machinery.
FACT is an integral and conserved component of the endogenous replication machinery, and support a model in which the concerted action of helicase and chromatin-modifying activities promotes chromosome replication.
yFACT and Set2 oppose one another during transcriptional initiation at a step involving DNA binding by TBP and TFIIA.
SSRP1 has Spt16-dependent and -independent roles in regulating gene transcription in human cells.
Data establish FACT as the major regulator involved in H2AX exchange process that is modulated by H2AX phosphorylation and Spt16 ADP-ribosylation.
results show that FACT, a heterodimer of dSPT16 and dSSRP1, associates with GAGA factor through its dSSRP1 subunit & facilitates chromatin remodeling; interactions between GAGA factor and spt16 implicate the GAGA factor-FACT complex in Hox gene expression
results show that FACT, a complex that comprises Spt16 and SSRP1, is associated with actively transcribed RNA polymerase II genes on Drosophila polytene chromosomes
The mouse Supt16h/Fact140 gene, encoding part of the FACT chromatin transcription complex, maps close to Tcra and is highly expressed in thymus
Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit\; this gene encodes the 140 kDa subunit.
FACT 140 kDa subunit
, FACT complex subunit SPT16
, chromatin-specific transcription elongation factor 140 kDa subunit
, facilitates chromatin remodeling 140 kDa subunit
, facilitates chromatin transcription complex subunit SPT16
, FACT complex subunit spt16
, supressor of Ty element 16
, suppressor of Ty 16 homolog
, FACT complex component Spt16 (predicted)
, hypothetical protein
, global regulator of transcription
, FACT (FAcilitates Chromatin Transcription) complex subunit, putative
, Facilitates Chromatin Transcription (FACT) subunit protein, putative
, cell division control protein 68 orthologue, putative
, chromatin remodelling protein, putative
, transcription elongation factor, putative
, DNA unwinding factor 140 kDa subunit
, facilitates chromatin transcription complex subunit spt16