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Mutations in the gene encoding the transcription factor GATA1 contribute to a specific type of leukemia in people with Down syndrome. This finding suggests a multistep pathway of leukemia development that involves GATA1 and one or more genes on chromosome 21.
Understanding how transcription factors control early pancreas development can yield insight into digestive diseases and guide protocols for therapeutic stem-cell differentiation. A new study, using a sensitive lineage-marking approach, shows that the transcription factor Ptf1a is critical to the specification of pancreatic endocrine, exocrine and duct cells in mice. This indicates an earlier and more pervasive influence of Ptf1a on organogenesis than was previously revealed by standard gene inactivation.
A new study of Drosophila melanogaster demonstrates that the establishment and maintenance of transcriptional repression are distinct processes that can be genetically dissected.
Biallelic mutations in ATM cause the recessive disorder ataxia-telangiectasia that is characterized by an increased susceptibility to cancer, but the link between single-copy ATM mutations and cancer has been more difficult to establish. New studies implicate missense mutations in ATM and suggest a model based on dominant interference in heterozygotes.
Despite many attempts to generate them, genuine spermatogonial stem-cell lines have not been available to study the processes of spermatogenesis and meiosis. A new approach may finally have succeeded.