Mutant of the Month

Credit: Photo: Sharon Reeves

March's MoM, B's Barn Willy Wonka, will be back on his feet just as soon as his muscles relax. It takes longer for the fainting goat to do this than it would for other goats because he carries a A885P substitution in the C terminus of CLC-1, the major skeletal muscle chloride channel. This is an excellent animal model for Thomsen (dominant) myotonia congenita. Recessive mutations in the same gene cause Becker myotonia. A single-nucleotide substitution has thus made a unique contribution to animal domestication and simultaneously provides an inbuilt sensor for an animal's welfare. When startled, or when attempting a sudden movement, the animal will stiffen and often fall over. Because the mutation affects only skeletal muscle, the goat remains conscious. The mutation was first noticed in Marshall County, Tennessee in the early 1800s, and these gentle, well-muscled little animals with their prominent eyes have since acquired an enthusiastic following (http://www.rfaintingfarm.com/), including American Tennessee and International Fainting Goat Associations. Whether you are currying favor with the kids or vice versa, speak nicely to these beasties: the mention of their other common name, Tennessee Meat Goats, might just scare them stiff. MA

Orthography for orthologs

Wouldn't it be convenient if the symbols for mouse genes were the same as those of their human equivalents? The Mouse Genomic Nomenclature Committee (http://www.informatics.jax.org/mgihome//nomen/index.shtml) is working closely with the HUGO Gene Nomenclature Committee (HGNC) to achieve just this aim. The HGNC's recently redesigned website (http://www.gene.ucl.ac.uk/nomenclature/) provides definitive guidance in naming newly recognized human genes, loci and chromosomal regions, and it bristles with search functions for interrogating those genetic entities that have already been defined. These tools allow researchers to expedite publication by meeting journals' criteria for gene labels before review. Stable and standard symbols are essential if a publication is to be useful to other researchers, a point that is becoming more acute as an increasing proportion of studies entail automated database searches. By way of an additional incentive for compliance, the HGNC will be awarding prizes of subscriptions to Nature Reviews Genetics and to this journal for the two posters at the 10th Human Genome Meeting in Kyoto this April that make correct use of the largest number of approved gene symbols. MA

Ernst Mayr, 1904–2005

Ernst Mayr, one of the leading evolutionary biologists of the twentieth century, died on February 3 at the age of 100. Mayr was an architect of the modern evolutionary synthesis positing that evolution acts at the level of genes, phenotypes and populations and helped bring the entire field to prominence. The Harvard professor was best known for evolutionary theories on how new species arise through diversification and natural selection, as represented in the landmark book Systematics and the Origin of the Species, published in 1942. In this book, Mayr formulated the concept of species, defined as a group with the ability to interbreed exclusively with other members of the group, and proposed that species originate when populations become isolated and are allowed to evolve different traits ('isolating traits') that prevent interbreeding. Mayr started his career as a medical student in Germany before emigrating to the United States to serve as curator at the American Museum of National History in the 1930s and 1940s. Mayr then joined Harvard University and became a prominent and active faculty member, serving as director of Harvard's Museum of Comparative Zoology from 1953 to 1961. Mayr was founder of the Society of the Study of Evolution in 1946 and served as the first editor of its journal, Evolution. He received many prizes, including the National Medial of Science in 1970, the Balzan Prize in 1983, the International Prize for Biology in 1994 and the Crafoord Prize in 1999. OB

Touching Base written by Myles Axton and Orli Bahcall.