Proceedings of the National Academy of Sciences of the United States of America

About the PNAS Member Editor
Name Bird, Adrian
Location University of Edinburgh
Primary Field Cellular and Developmental Biology
 Election Citation
Bird pioneered DNA methylation research by mapping genomic methylation patterns. He identified CpG islands as gene markers that influence chromatin modification. He also discovered DNA methylation readers that mediate gene silencing and showed that a neurodevelopmental disorder caused by mutations in one reader protein is reversible and therefore potentially curable.
 Research Interests
Adrian Bird has studied the biological and biomedical significance of DNA methylation. He introduced the use of restriction enzymes to map patterns of methylated CpG sites in genomic DNA. This led to the recognition that "CpG islands" - non-methylated CpG-rich genomic domains - are associated with the promoters of most mammalian genes and could be used as markers for early gene-discovery in mammalian DNA. The Bird laboratory later described a family of proteins with an affinity for the methyl-CpG sequence and demonstrated that several can mediate transcriptional repression. MeCP2 was the first methyl-CpG binding protein to be purified and was shown to recruit a transcriptional corepressor complex to DNA, providing a mechanistic connection between two different epigenetic marks - DNA methylation and histone acetylation. The report by others that mutations in the MECP2 gene cause of the autism spectrum disorder Rett Syndrome (RTT) led Bird to pursue the molecular basis of this disorder. His group created a convincing mouse model of RTT and established, unexpectedly, that the resulting severe neurological phenotype is reversible. Both terminally ill Mecp2-null males and chronically symptomatic heterozygous females lost all RTT-like signs, suggesting that this is potentially a curable disorder.

 
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