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.
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.
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The Dawn of Human Matrilineal Diversity |
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Corrected Odds Ratios for Genome Scans |
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Genome-wide Association of Expression |
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Genome-wide Association Study for CRP |
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ZNF469 Mutations in Brittle Cornea |
These are the most read articles by download from the AJHG web site for the last 30 days.
The American Journal of Human Genetics is looking for a Scientific Editor to work closely with the other members of the AJHG editorial team overseeing the peer-review process and managing the editorial direction of the journal. Click here, for more information.
To apply, please submit a CV and cover letter describing your qualifications, research interests, and reasons for pursuing a career in scientific publishing to ajhg@ajhg.net. No phone inquiries, please. The American Journal of Human Genetics is an equal opportunity/affirmative action employer, M/F/D/V.
As a result of the new relationship between The American Society of Human Genetics and Cell Press, society members will not have to pay page or color figure charges.
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Pediatric Clinical Geneticist
With participation in the Department of Pediatrics' clinical, teaching and research missions, the candidate will also be expected to pursue scholarly activities in at least one of the following areas: clinical genetics, education, clinical trials/research, or basic research. Candidates must have an MD/DO degree & be BC/BE in Clinical Genetics. UTMB is an EO/AA institution that proudly values diversity. Candidates of all backgrounds are encouraged to apply. Click here for more information.