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Cited by 175

The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.

Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum

Open access
Wang, Tao, Pan, Qian, Lin, Li, Szulwach, Keith E., Song, Chun-Xiao, He, Chuan, Wu, Hao, Warren, Stephen T., Jin, Peng, Duan, Ranhui, Li, Xuekun·2012·Human Molecular Genetics

Abstract

5-Hydroxymethylcytosine (5-hmC) is a newly discovered modified form of cytosine that has been suspected to be an important epigenetic modification in neurodevelopment. While DNA methylation dynamics have already been implicated during neurodevelopment, little is known about hydroxymethylation in this process. Here, we report DNA hydroxymethylation dynamics during cerebellum development in the human brain. Overall, we find a positive correlation between 5-hmC levels and cerebellum development. Genome-wide profiling reveals that 5-hmC is highly enriched on specific gene regions including exons and especially the untranslated regions (UTRs), but it is depleted on introns and intergenic regions. Furthermore, we have identified fetus-specific and adult-specific differentially hydroxymethylated regions (DhMRs), most of which overlap with genes and CpG island shores. Surprisingly, during development, DhMRs are highly enriched in genes encoding mRNAs that can be regulated by fragile X mental retardation protein (FMRP), some of which are disrupted in autism, as well as in many known autism genes. Our results suggest that 5-hmC-mediated epigenetic regulation may broadly impact the development of the human brain, and its dysregulation could contribute to the molecular pathogenesis of neurodevelopmental disorders. Accession number: Sequencing data have been deposited to GEO with accession number GSE40539.

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Metadata

Authors
Wang, T., Pan, Q., Lin, L., Szulwach, K. E., Song, C.-X., He, C., Wu, H., Warren, S. T., Jin, P., Duan, R., & Li, X.
Venue
Human Molecular Genetics
Published
2012-10-05
Volume
21
Issue
26
Pages
5500-5510
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2124428150
Cited by
175
References
17
FWCI
7.55
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. https://app.cochat.ai/papers/10.1093/hmg/dds394
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Wang, T., Pan, Q., Lin, L., Szulwach, K. E., Song, C.-X., He, C., Wu, H., Warren, S. T., Jin, P., Duan, R., & Li, X. (2012). Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum. Human Molecular Genetics. https://doi.org/10.1093/hmg/dds394

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