Reviews & Analysis

Two new papers report advances in the understanding of the GNAS complex locus of overlapping and oppositely directed transcripts that are subject to genomic imprinting.

A comprehensive microarray-based analysis of the cell cycle shows that periodic transcription of most genes is not conserved between Schizosaccharomyces pombe and Saccharomyces cerevisiae. A core group of ∼40–80 genes have conserved patterns of transcription and may have key roles in cell cycle progression.

Inactivating mutations in TGFBR2, encoding the transforming growth factor-β (TGFβ) type 2 receptor, may account for up to 10% of cases of Marfan syndrome. This finding has implications for a wider spectrum of disorders, including cancer, fibrosis and inflammatory and cardiovascular diseases, which are influenced by TGFβ.

Schizophrenia is a severely disabling disorder with a lifetime risk of ∼1%, which accounts for 2.8% of the global burden of disease. A new study provides evidence that a third gene in the 22q11 region is associated with schizophrenia, further confounding an already complicated story.

Factors that modify chromatin are crucial for regulating gene expression, but what, in turn, regulates these factors? A new study highlights the importance of signaling cascades in recruiting chromatin-remodeling enzymes to specific promoters during muscle differentiation.

The discovery that a differentiated somatic cell can give rise to a new organism through nuclear transfer cloning touched off a revolution in genetics. A new study outlining how to target genes serially in cows ushers in a new era in large-animal genetics.

The nucleotide excision repair system is essential for repairing DNA damage caused by exposure to sunlight. Now, parallel studies in yeast and individuals with a rare disease called trichothiodystrophy have identified a new component of the DNA repair and basal transcription factor TFIIH.

The acquisition of an abnormal number of chromosomes is a hallmark of many human cancers. A new study indicates that unequal segregation of genetic material to daughter cells during cell division can also lead to premature senescence and accelerated onset of a variety of aging phenotypes.

Earlier this year, the 4th International Meeting on Unstable Microsatellites and Human Disease highlighted how far and fast the research of diseases associated with expanded repeats has advanced, and spotlighted the remaining recalcitrant problems.

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.