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Human embryos that develop in the presence of chromosomes solely of paternal origin give rise only to a disorganized mass of placental derivatives known as a complete hydatidiform mole. A new study reports that mutations in NALP7, a gene thought to be involved in inflammatory and apoptotic pathways, occur in human females whose biparental conceptuses can develop as apparent complete moles.
Neural tube defects (NTDs) represent a broad and complex class of brain malformations, and despite much progress in understanding their etiology, many facets of neural tube development and closure remain obscure. Two new studies report the identification of the first two genes responsible for Meckel-Gruber syndrome, one of the major contributors to syndromic NTDs, and implicate defective cilia in its pathogenesis.
Anthrax lethal toxin lyses macrophages derived from certain inbred mice but not others, forming the basis of a bioassay widely used in the development of antibodies and drugs to treat anthrax. A new study identifies two genes essential for this lysis, revealing potential links between toxin-induced proteolysis and cellular killing.
The sequence of a second chimpanzee Y chromosome has been determined. It confirms the degradation of four genes on the chimpanzee lineage, reveals the recent gain of one on the human lineage and emphasizes the low Y-chromosomal genetic diversity within western chimpanzees.
Common cardiovascular diseases are expressed as genetically complex traits, and identifying the underlying genes is difficult. A new study provides resources required for a more integrative view of cardiovascular systems.
An important role of RNA interference (RNAi)-like pathways in plants is defense against viral infection. Viruses can overcome this defense by expressing proteins that suppress the pathway. A new study of Agrobacterium tumefaciens infection reveals that this plant pathogen, although a bacterium, also induces and then suppresses the host RNAi response.
A new study shows that mutations in the gene encoding carboxyl ester lipase (CEL) cause beta cell dysfunction and early-onset diabetes. As this gene is expressed in the exocrine, and not the endocrine, pancreas, its identification challenges many of our preconceived ideas about the causes of beta cell dysfunction in diabetes.
SNP genotyping platforms have been used to discover ∼1,000 deletion structural variants within the human genome, with median lengths ranging from 500 bp to 10.5 kb. Analyses of a subset of these provide compelling evidence of linkage disequilibrium with flanking SNPs.
A new study shows that some cases of early-onset Alzheimer disease result from duplications of the APP locus, which encodes the amyloid β precursor protein. This finding fulfills a 20-year-old prediction that genetic variability in APP expression could lead to disease and provides further, perhaps definitive, evidence for the amyloid hypothesis of the disorder.
Complex diseases are influenced by many interacting genetic and environmental risk factors. A multiethnic case-control association study identifies a genetic variant for myocardial infarction that seems to confer higher risk in African Americans than in European Americans.
