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Mammalian small heat-shock proteins are suspected to have a role in neuromuscular function. Two new studies provide evidence for the association of mutations in two of these proteins, HSP22 and HSP27, with human neuromuscular disorders.
The molecular mechanisms that regulate the balance between differentiation and self-renewal in spermatogonial stem cells are elusive. Two studies now show that the transcriptional repressor Plzf is an essential regulator of spermatogonial stem cell maintenance.
A new study identifies a protective role for cellular aggregates in Huntington disease by showing that aggregates promote the clearance of mutant protein by activating autophagy through the inhibition of mTOR. This challenges the common view that they are possibly innocuous but probably harmful to the host cell.
The transcription factor PU.1 has an essential role in hematopoiesis. New evidence shows that reducing PU.1 expression to 20% of wild-type levels results in an aggressive form of acute myeloid leukemia.
The genetic composition of sex chromosomes has been deciphered, in part, through large-scale gene expression studies in different species. A new study in mice adds a missing piece of the puzzle: the composition of the X chromosome in mammals is influenced by inactivation of the sex chromosomes during male meiosis.
Philadelphia chromosome–positive leukemia may present as chronic myeloid leukemia or B-cell acute lymphoblastic leukemia. A new study shows that certain Src kinases are necessary for the induction of B-cell acute lymphoblastic leukemia but not chronic myeloid leukemia.
Specific post-translational histone modifications correlate with distinct patterns of gene activity. A new study of the mouse Dntt promoter shows that changes in gene activity are associated with local changes in histone modification that then spread outward in both directions, locking in the altered pattern of transcription.
A new study shows that 'anticipation' occurs in the autosomal dominant form of dyskeratosis congenita and is due to inheritance of short telomeres and mutations in TERC (encoding telomerase RNA).
The rat genome sequence, the third mammalian genome sequence to be generated, was recently reported in Nature. The sequence provides new insights into mammalian genome evolution and the opportunity to translate decades of descriptive phenotyping to an understanding of the molecular mechanisms that underlie these phenotypes.
New evidence suggests that Wnt signaling can be suppressed or further activated by upstream signals, even though the pathway seems to be constitutively activated by downstream mutations in cancer cells.
The ubiquitous USF proteins regulate the transcription of many genes involved in lipid and glucose homeostasis. A new study provides genetic evidence that USF1 may confer susceptibility to high blood lipid levels.
The Wip1 phosphatase is encoded by an oncogene that is amplified in several forms of human cancer, including breast cancer. Ablation of this gene confers resistance to breast tumors induced by certain oncogenes.
The association of diseases with genes is complex, even among mendelian disorders. A new study shows that mutations in the gene encoding filamin B (FLNB) cause four distinct disorders of human skeletal development.
Understanding how gene expression is regulated on a global scale is important for determining how basic processes such as cell proliferation, cell differentiation and responses to environmental signals are controlled. Three papers now show that it is possible to identify binding sites for key transcription factors in human cells on a chromosome level.
