The AJHG editors are very pleased to bring you the first edition of the 'Best of' AJHG. This collection, which represents some of the most highly downloaded papers from Volumes 89 and 90, highlights the many exciting topics covered in the journal, including evolutionary and population genetics, genome-wide association studies, the genetics of disease, and new approaches for analyzing sequencing data. We hope that you enjoy this special edition of the Journal, and we look forward to bringing you the best research in human genetics.
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Editorial Opportunities
Scientific Editor, Immunity
"A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden"
- Read the paper by Funnell et al.
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Sci-News.com
"An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree"
- Read the paper by Mendez et al.
- Story at Phys.org
- Story at Daily Mail UK
- Story at Atlanta Black Star
- Story at Fox News
- Story at Cosmic Log
- Story at New Scientist
- Story at RedOrbit.com
"Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma"
- Read the paper by Srinivasan et al.
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Discovery News
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Time
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Bloomberg Businessweek
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Examiner.com
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Volume 92, Issue 3: March 7, 2013
On the cover: James Franklin Crow, Ph.D., President, American Society of Human Genetics, 1963. James F. Crow made historic contributions to the scientific community—and to the public at large—through his research, teaching, public service, ethical analysis, and leadership in the fields of genetics and human genetics. Born in 1916, he spent his early years in Wichita, KS, where his father was a professor of biology at Friends University. He performed his doctoral research in zoology at the University of Texas at Austin in Drosophila cytogenetics with John T. Patterson (Genetics [2001] 157, 1–5). Crow took a position at Dartmouth College in 1941 and taught a broad array of subjects in biology, statistics, and even navigation, partly because of the need to educate naval officers during World War II. In 1948, he moved to the University of Wisconsin-Madison, where he remained for 64 years. Students remarked on the amazing clarity and simplicity of his lectures. His course text, Genetic Notes: An Introduction to Genetics (Burgess Publishing [1950]), often referred to as "Crow’s Notes," became the foundation for genetics courses around the world. Crow, N. Morton, and H.J. Muller published a landmark paper in which they estimated the average number of heterozygous lethal alleles in humans and the mutation rate by using data from consanguineous mating (Proc. Natl. Acad. Sci. U S A [1956] 42, 855–63). Crow and student M. Kimura’s work led to the latter’s development of the theory of neutral evolution. They coauthored the influential text An Introduction to Population Genetics Theory (Harper & Row [1970]). Crow’s perspectives series in Genetics (1987–2008), coedited with William Dove, offers a delightful collection that teaches the origins of genetics and informs about the personalities responsible, but Crow's own 1963 ASHG presidential address on genetic-load theory went unrecorded. His debate over semantics and theory with C.C. Li and L.D. Sanghvi can be found in The Journal (AJHG [1963] 15, 298–321). The numerous tributes written after his death in January 2012 provide abundant documentation of his ongoing impact on the field of genetics and its practitioners, and they are highly recommended. This image of Crow was drawn by Peter James Field from a December 1962 photograph (#S09905) provided courtesy of the University of Wisconsin-Madison Archives and is used with permission.
Click here for a high-resolution version of the cover.
Each week, The American Journal of Human Genetics publishes papers online ahead of the print issue. Here are the latest:
Pyott et al. and Keupp et al. identify WNT1 mutations that cause bone fragility. |
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Optimized Southern Blot Helps to Determine C9orf72 Repeat-Expansion Size
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A SNP Slows Migration
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Zooming in on CNVs
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A New Look at the Y
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ONECUT Ahead
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Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
The GGGGCC hexanucleotide expansion in C9orf72 is the most frequent cause of amyotrophic lateral sclerosis (ALS) and frontaltemporal lobar degeneration (FLTD), neurodegenerative disorders that are characterized by the presence of TDP-43-positive inclusions. How the C9orf72 expansion causes the disease, however, remains unknown. In this paper, Petrucelli and colleagues show that the repeat is subject to repeat-associated non-ATG (RAN) translation and that the product of this noncanonical translation accumulates in insoluble inclusions in the brains of affected individuals. These findings could have implications both for the understanding of how this genetic variant causes disease and for the treatment of ALS and FLTD.
AJHG publishes author interviews, editorial tips, and cutting-edge manuscripts about an array of topics important to the human genetics community. Visit our collections of podcasts, editorial tips, and manuscripts arranged by topic.
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Click here to view the most-read articles by download from the AJHG web site for the last 30 days.