Mapping autism risk loci using genetic linkage and chromosomal rearrangements

The AGP also scanned DNA from these families for copy number variations (CNV), or sub-microscopic genomic insertions and deletions that scientists believe might be involved with this and other common diseases. The innovative combination of these two approaches implicates a previously unidentified region of chromosome 11, and neurexin 1, a member of a family of genes believed to be important in neuronal contact and communication, among other regions and genes in the genome. The neurexin finding in particular highlights a special group of neurons, called glutamate neurons, and the genes affecting their development and function, suggesting they play a critical role in autism spectrum disorders.

Nature Genetics (18 Feb 2007) Article

Chromosome instability leaves its mark

Jonathan R Pollack

SUMMARY: Genomic instability is a common feature of human cancer. A new study identifies a putative gene expression signature of chromosome instability in solid tumors, with

CONTEXT: …has been known, available methods to measure aneuploidy, such as flow cytometry–based ploidy analysis, FISH, CGH and LOH analysis, have yet to be widely adopted in the clinical management of patients with solid tumors. Whether gene…

Nature Genetics 38, 973 – 974 (01 Sep 2006) News and Views

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J Sharp, Sierra Hansen, …, Evan E Eichler

SUMMARY: Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of

CONTEXT: …abnormalities had also been excluded. None had been previously analyzed by array comparative genomic hybridization (CGH). Parents or guardians of all subjects provided informed consent, and the protocol was reviewed and approved by…

Nature Genetics 38, 1038 – 1042 (01 Sep 2006) Letters

Using array-comparative genomic hybridization to define molecular portraits ofprimary breast cancers

S-F Chin, Y Wang, N P Thorne, A E Teschendorff, S E Pinder, M Vias, A Naderi, I Roberts, N L Barbosa-Morais, M J Garcia, N G Iyer, T Kranjac, J F R Robertson, S Aparicio, S Tavaré, I Ellis, J D Brenton, C Caldas

SUMMARY: We analysed 148 primary breast cancers using BAC-arrays containing 287 clones representing cancer-related gene/loci to obtain genomic molecular portraits. Gains were detected in 136

CONTEXT: …analysis to subtype breast cancers. Cytogenetic methods, including conventional comparative genomic hybridization (CGH), have revealed chromosomal regions that are frequently altered in breast tumors (Kallioniemi et al., 1994;…

Oncogene (25 Sep 2006) Oncogenomics