Volume 27 Issue 3, March 2001

Editorial

Harvesting the fruits of the human genome

Editorial 01 Mar 2001

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News & Views

The end of all human DNA maps?

The international consortium to sequence the human genome is using a clone-by-clone approach to DNA sequencing. The large arrays of clones that have been created for this purpose are important not only for the Human Genome Project: as our understanding of the individual and population variation of our genome becomes deeper, these clones will become important sequenced exemplars of human genes, with substantial implications for future research.

Peter Little
News & Views 01 Mar 2001
BACking up the promises

A large number of bacterial artificial chromosomes containing human DNA have been regionally mapped to chromosomes and are available to investigators. This dense collection of BACs (about 2.6 clones per Mb) will enhance the diagnostic capabilities of genomic abnormalities.

Stylianos E Antonarakis
News & Views 01 Mar 2001
Chipping away at the transcriptome

Although a first draft of the human genome is now available, our knowledge of the set of transcripts expressed from this sequence is still far from complete. A new method using ink-jet microarray technology to experimentally test predicted exons provides a genome-based platform for gene identification that bypasses an important limitation of older technologies based on cDNA libraries.

Christopher B Burge
News & Views 01 Mar 2001
Variation is the spice of life

Assembling a comprehensive catalog of common human sequence polymorphisms is a key goal of the Human Genome Project. The International SNP Map Working Group has compiled a map of 1.4 million single-nucleotide polymorphisms. What fraction of all human sequence variation is captured in this collection, and what further advances are needed before the map becomes a useful tool for genetic studies?

Leonid Kruglyak
Deborah A Nickerson
News & Views 01 Mar 2001
γ-H2AX illuminates meiosis

The temporal and functional relationships between the DNA events of meiotic recombination and the synaptonemal complex (SC), a meiosis-specific structure formed between homolog axes, are subjects of intense discussion and investigation. A new study provides evidence that initiation of recombination (through programmed double-strand breaks (DSBs)) precedes initiation of SC formation, and further suggests that progression of recombination is required for formation of SC on a region-by-region basis. These conclusions derive from immunocytological analysis of a phosphorylated histone variant, γ-H2AX, previously found to be characteristic of DSB repair in mitotic cells, and shown here to be recruited for specialized use during meiosis.

Neil Hunter
G Valentin Börner
Nancy Kleckner
News & Views 01 Mar 2001
Deconstructing DiGeorge syndrome

DiGeorge syndrome is the most frequent contiguous-gene deletion syndrome in humans, occurring with an estimated frequency of 1 in 4,000 live births. Extensive microdeletion mapping in a large number of affected individuals has failed to identify a single gene or a combination of genes commonly deleted. Two new studies implicate the transcription factor TBX1 as a key candidate gene for the aortic arch malformations seen in DGS, and are consistent with the concept that some congenital diseases are caused by a reduced dosage of genes that control development. However, a similar study focusing on the adaptor protein Crkol shows that other genes within the deleted regions might affect the same developmental pathways.

Martina Schinke
Seigo Izumo
News & Views 01 Mar 2001
Chipping away at chromatin

When DNA-binding proteins are tethered to dam methylase from Escherichia coli, adenine methylation is directed to eukaryotic target sites in vivo. Hybridization of methylated DNA to microarrays allows binding sites to be displayed genome-wide, providing a versatile alternative to chromatin immunoprecipitation.

Robert Martienssen
News & Views 01 Mar 2001
Touching base

News & Views 01 Mar 2001