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Zoology and wildlife conservation

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Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Article Abstract:

It has been established that the ultimate cause of the recessive autosomal disorder known as ICF syndrome is defective DNA methylation. It was found that five unrelated ICF patients had mutations in both alleles of the gene that encodes DNA methyltransferase 3B. Cytosine methylation is vital for the organization and stabilization of a certain type of heterochromatin, and this methylation seems to be undertaken by an enzyme specialized for the role. It is possible that methylation is needed for the assembly of the silencing foci around condensation of satellite DNA, for the recruitment of silencing proteins to the foci or for the migration of silent genes into the foci.

Author: Tommerup, Niels, Bourc'his, Deborah, Bestor, Timothy H., Russo, James J., Viegas-Pequignot, Evani, Hulten, Maj, Xu, Guo-Liang, Hsieh, Chih-Lin, Bugge, Merete, Qu, Xiaoyan
Publisher: Macmillan Publishing Ltd.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1999
Immunological deficiency syndromes, Immunologic deficiency syndromes

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Methylation meets acetylation

Article Abstract:

Genetic research shows that the biochemicals cytosine methylation and histone acetylation work together in the vertebrate gene transcription process. The work of scientists Nan et al and Jones et al has established that methylation and histone deacetylation are present in histone deacetylase. The biochemical cytosine methylation does not wholly manage histone acetylation activity.

Author: Bestor, Timothy H.
Publisher: Macmillan Publishing Ltd.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1998
Histones, Methylation

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Subjects list: Genetic aspects
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