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Relevance to Autism

Brain-specific knockout of the H2AZ1 gene (formerly known as the H2AFZ gene) in mice resulted in enhanced proliferation of neuronal progenitors with reduced neuronal differentiation, abnormal dendrite formation in neurons, and multiple behavioral deficits including deficiencies in social interaction, decreased exploratory activity, and impaired learning and memory (Shen et al., 2017). An intronic SNP in the H2AZ1 gene (rs2276939) has been determined to associate with schizophrenia, particularly in male patients, in case-control analyzes in Japanese and Han Chinese populations (Jitoku et al., 2014; Chang et al., 2015).

Molecular Function

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.
Positive Association
Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophrenia.
SCZ
Positive Association
Association study of H2AFZ with schizophrenia in a Japanese case-control sample.
SCZ
Support
Chromatin profiling in human neurons reveals aberrant roles for histone acetylation and BET family proteins in schizophrenia
Schizophrenia
Support
Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway
No Rare Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model

No Animal Model Data Available

No PIN Data Available
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