KAT6B


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KAT6B

A gene on chromosome 10q22.2 that encodes a histone acetyltransferase which, depending on the context, up- or downregulates transcription. KAT6B is required for RUNX2-dependent transcriptional activation and may be involved in development of the cerebral cortex. It is part of the MOZ/MORF complex, which has histone H3 acetyltransferase activity.

Molecular pathology
Defects in KAT6B are a cause of genitopatellar syndrome and Ohdo syndrome (SBBYS variant). Chromosomal defects  of KAT6B have been linked to acute myeloid leukaemias via translocation t(10;16)(q22;p13) with CREBBP.
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References in periodicals archive ?
Kat6b was identified in these analyses as one of a small group of genes that are likely potential targets for miR-487b (Table 3).
Kat6b Expression Is Suppressed in Murine Macrophages by LPS.
As expression of the HAT Kat6b was strongly suppressed in response to LPS, we investigated the expression of additional members of the MYST family of genes (MYSTs 1-5) to determine the specificity of this LPS-mediated suppression of Kat6b.
Role of the Putative miR-487b Binding Site in the Kat6b 3'UTR in the Regulation of Kat6b Expression.
These results support the potential role of miR-487b to regulate Kat6b expression through binding to its binding site in the Kat6b 3'UTR.
The HAT Kat6b was identified in these analyses as one of a small group of genes that are potential targets for miR-487b.
As the HAT Kat6b was identified in this study as a potential target of miR-487b, we examined the effects of LPS on the expression of Kat6b and also of the other members of the Kat family of HATs (Kat6a, Kat5, Kat7, and Kat8).
Since Kat6B (MYST4, MORF) was identified as a potential target of miR-487b (Figure 1), we studied the expression of Kat6b, as well as the other members of the MYST family of HATs, in the response of macrophages to LPS (M1) and LPS/NECA (M2d) activation.
To determine the role of miR-487b in the regulation of Kat6B suppression by LPS in macrophages, we cloned the intact Kat6B 3'UTR and a mutated 3'UTR lacking the miR-487b core binding sequence into a luciferase reporter plasmid.
In summary, we have found that the HAT Kat6B is strongly suppressed in macrophages by LPS (M1 activation), while Kat6A is reciprocally upregulated.
Dafou et al., "De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome," American Journal of Human Genetics, vol.
Caption: Figure 1: Region of the Kat6b 3'UTR sequence containing the putative miR-487b conserved binding site, indicated in bold.