“Mutation, of course, involves change,” writes Elof Axel Carlson. “But our understanding of that change is influenced by the time we live in.”  In his latest book, Carlson explores the history—the people, science, and ideas—behind the concept of mutation.

Carlson describes how the idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin’s generation over 150 years ago. Darwin viewed “fluctuating variations” as the raw material on which evolution acted.

The 1900 rediscovery of Mendel’s experiments led to a discontinuous model of evolution by mutation.  Cytological investigations led to the chromosome theory, which proposed that chromosomes, containing genes with random mutations, provided the physical basis for Mendel’s laws. The interpretation of the gene as DNA and the deciphering of the genetic code then gave rise to molecular interpretations of mutation.

“Many scientists tend to be unaware of how their colleagues of many generations ago conceived their field,” writes Carlson. His approach in this book—examining the evolution of a concept—reveals the way science works, incrementally by small steps of additions and replacements rather than by dramatic, and rare, paradigm shifts.

Finally, Carlson explores how the nonscientific public has a different sense of the term “mutation” that has also shifted over time. He describes this in terms of eugenics, radiation, politics, medicine, and genetic engineering.

For more information on the book, click here.

Speaking of Genetics

Researchers convey the exhilarating moments of discovery, as well as the hard work, serendipity, joy, and frustration involved. Harris says the book “will prove inspirational to scientists at all stages of their careers.”

This year marks the 10^th anniversary of the publication of the draft human genome sequence. What has it told us about human biology? Do we know the function of every gene in the human genome?

To address these questions, Stewart Scherer has spent substantial time and effort compiling information from the scientific literature about human genes and their biological functions.  The result is a new online resource, Guide to the Human Genome, that puts the genes of the human genome in their biological context. The Guide, available at www.humangenomeguide.org, provides extensive up-to-date information about human genes in an easily accessible format.

The Guide contains nearly 300 sections, each of which describes genes involved in a specific pathway, process, or structure—from the molecular and cellular levels to developmental and physiological processes.  For example, it contains sections entitled “Telomere Functions,” “MAP Kinase Pathways,” “Potassium Channels,” “Lipid Metabolism,” “Cardiovascular System,” and “Circadian Rhythms”; each of these sections describes the genes involved in that specific process (and the roles of their corresponding proteins).  The text of these sections is also available as a book.

The online version also contains links to more information about proteins encoded by over 17,000 known or predicted human genes. For each protein, basic characteristics about its composition and length, its human relatives and relatedness to proteins in other species, and direct links to resources at NCBI are included. The entire text of the Guide is searchable, and tools are available for identifying human protein sequences using those from other species.

In the video below, Scherer demonstrates how to use the Guide.

The Guide is useful for researchers looking to connect sequence data with functional information, and can be used in parallel with traditional texts in undergraduate and graduate courses to provide a genomics dimension and experience of identifying genes underpinning processes of interest.

“The Guide is not simply a textbook, a database, a review article, or a reference book,” writes Scherer. “By combining aspects of all of them, I hope it is useful to students, faculty, and researchers.”

This article series marks the latest entrant in Cold Spring Harbor Protocols’ long-running series on Emerging Model Organisms.