Research at NHGRI
The Division of Intramural Research conducts a broad program of laboratory and clinical research.
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NHGRI researchers provide insights on the genetics of dog skull variation

Read more Breeding has fostered remarkable craniofacial diversity in the domestic dog — from the elongated snouts of Collies to the compressed faces of Pugs. NHGRI researchers review the biology and genetics of canine skull formation in an article appearing in the journal Genetics. (Read more)

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Current Topics in Genome Analysis 2012
Current Topics in Genome Analysis lecture series consists of lectures by local and outside speakers covering the major areas of genomics.

Highlights

Mouse study shows mutations that impact ribosome proteins cause a spectrum of other traits

PLOS logoWilliam Pavan, Ph.D., senior investigator in the Genetic Diseases Research Branch, is co-senior author of a study that expands the understanding of disease traits that are attributed to individual mutations in ribosome proteins. Ribosomes are responsible for constructing the many proteins required for cell functions. In studies in mice, modeling human disease traits, the researchers demonstrated how mutations of ribosome protein genes give rise to a surprising diversity of observable traits, or phenotypes. The study, Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes, appeared in the Jan. 31, 2013 issue of PLoS Genetics.

The journal also published a related commentary in the same issue by researchers who underscored the importance of the findings.

Last Updated: February 13, 2013