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Cover Image
Volume 82 Issue 5  May 9th, 2008
(Next issue: June 6th, 2008)

Back in 1968, several traits had already been linked to the X chromosome, but not a single phenotype had been linked to any of the 22 autosomes. This changed when Roger Donahue and colleagues in Victor McKusick's lab reported that the Duffy blood group locus resided on 1q (PNAS 61:950–955). Donahue examined his own chromosomes and those of his relatives and noted that the "uncoiled" region of chromosome 1 segregated with the Duffy blood group in his family. The cover shows a metaphase spread illustrating this extended heterochromatic region near the centromere of chromosome 1. Now considered a clinically insignificant variant, this heterochromatic region was originally referred to as the "uncoiled" element and is indicated here by an arrow. Special thanks to Azra H. Ligon, Brigham and Women's Hospital, Department of Pathology, Clinical Cytogenetics Laboratory, Boston, for the metaphase image.


Latest Articles

The American Journal of Human Genetics publishes papers online ahead of the print issue on a weekly basis. This week's posting includes a paper on genetic variants associated with knee osteoarthritis in women. Click here to see all papers not yet in print.


Featured Article

 Behar

The Dawn of Human Matrilineal Diversity
The maternal genetic structure of the African people at the time of the out-of-Africa dispersal is incompletely understood. Behar et al. analyze complete mtDNA sequences from the Khoisan and related populations to establish the origin and timing of the development of the Khoisan mtDNA structure.

In This Issue

 Ghosh

Corrected Odds Ratios for Genome Scans
Significant results of association scans are subject to what has become known as the "winner's curse," a bias in which the estimate of risk effect is inflated. Ghosh et al. establish an approach to correct for this bias that is computationally feasible for genome-wide data and that can be implemented using standard software.

 Duan

Genome-wide Association of Expression
Gene expression can be controlled via variation by expression quantitative nucleotides (eQTNs) located near to or far from the gene. Duan et al. report a comprehensive evaluation of the effects of eQTNs on expression of transcripts throughout the genome in the CEU and YRI HapMap samples.

 Ridker and Reiner

Genome-wide Association Study for CRP
Evaluating the levels of circulating C-reactive protein (CRP) in healthy individuals can serve as a means of predicting their risk of developing metabolic syndrome, cardiovascular disease, or stroke. Ridker et al. and Reiner et al. perform genome-wide association studies using thousands of individuals. Strong significant signals are observed with SNPs in HNF1A, the gene encoding hepatocyte nuclear factor-1α.

 Abu

ZNF469 Mutations in Brittle Cornea
People with brittle cornea syndrome (BCS) suffer from a variety of different issues including a very fragile cornea that is easily damaged, hypermobility of the joints, and hyperlaxity of the skin. Abu et al. fine-map the disease locus on 16q24 and detect mutations in ZNF469 in patients affected with BCS.

Featured Review from Trends in Genetics

The recent development of massively parallel sequencing technology is set to impact many areas relevant to geneticists - from metagenomics, defining protein-DNA interactions to sequencing whole genomes faster than ever. As we enter the era of 'personal genomics', Elaine Mardis provides an overview of the next-generation sequencing technology and considers how it might provide a more complete picture of how the genome shapes the organism.

 

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Most Read Articles

These are the most read articles by download from the AJHG web site for the last 30 days.

 

 


Announcements

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Featured Job

Cytogeneticist Medical Director
Cytogenetics Laboratory ARUP Laboratories
University of Utah, Salt Lake City

The University of Utah, Department of Pathology is seeking a Clinical Cytogeneticist to serve as a Medical Director at ARUP Laboratories, an enterprise of the University of Utah. The successful candidate will have a faculty appointment in the Department of Pathology with rank based on academic experience. Through excellence in laboratory testing, service, education and research, ARUP's mission is to continually improve patient care. Click here for more information.