A quick look at the past, present, and future of human genome research. This book is thorough but accessible. I only wish there had been citations in the endnotes, to give suggestions for further reading.

I really liked that the author is a scientist who actually worked on the Human Genome Project, and could give his personal experience with it. It is worth noting, however, that the book is about human genome research, particularly the Human Genome Project, and not about the human genome in general. I think it would have been more accurate to title the book "The Human Genome Project: The Book of Essential Knowledge".

I wasn't sure about the strange size and shape of the book at first. (It is shorter and wider than most books, like a miniature textbook) but in the end it was comfortable to read and that is all that matters. ( )

This book is a good overview of the genome project. If you are looking for more scientific details and history look elsewhere. I found it informative and worth my time to read. It also gave me enough information to research further into areas I was interested in. ( )

A superior exploration of the human genome, genomics, genetics, and molecular biology. It is always difficult to take a complecated and variable topic (whether it is statistics, economics, or genomics) and explain it to the enthusiastic lay reader. Some books attempt to do this by dumbing down the topic. Quackenbush, however, takes a far superior approach adn works more like a fluent translator that organizes and present the different aspects of genomics to the interested layman. My favorite part was chapter 6 where he explores genomics and evolution. Each chapter could be a book unto iteself, but Quackenbush's tight, well paced book kept me wanting to untangle the mystery even more. Bravo. ( )

This is my first read of a book from the "Curiosity Guide" series and I can say that I will be looking for others!

At first, I expected The Human Genome to be a very dry, technical book, but also thought that as part of a series, maybe it would be readable for a non-geneticist or molecular biologist. Once I received it, I was also hesitant to start reading. BUT - Once I started, it was such a quick, clear, concise and engaging read, I couldn't put it down. I actually finished it in 4 sessions.

As a renaissance man, I have many, many hobbies, including devouring scientific knowledge. However, if things get too technical (e.g. mathematical formulas in a quantum physics book), I quickly glaze over. In this book, Quackenbush does an excellent job of presenting enough technical details at a reasonable level of abstraction that it will appeal to a wide range of readers. It was about 1/2 between "blue eyed mom and brown eyed dad have a xx% chance of a brown eyed child" and "tendency of left-handed folding of proteins based on mRNA mutations" (i just made that up but it sounds like some of the stuff I've attempted to read). In other words, it is written at just the right level to engage the lay person, but provide believable scientific details for the more 'scientific' types.

Others have written very detailed reviews, referencing chapter-by-chapter details. If you want that level of review - read those! They are great.

I really enjoyed the book and find that my knowledge of genetic research and specific implications for future medicine has greatly increased. ( )

In this small book, John Quackenbush seeks to explain to a general audience what the Human Genome Project (HGP) is and the implications of its findings in the realms of science and medicine. Quackenbush may have been a late-comer to biology (having received his undergraduate and graduate degrees in physics), but since the early 1990s, he has conducted research in genomics under the auspices of prominent scientific institutions, including the Dana Farber Cancer Institute.

The Human Genome is aimed at a general audience, and framed in non-technical language that will be easily understood by most interested readers. Following a brief introduction, the book begins with an overview of cells, genes, chromosomes, DNA, and protein synthesis. Chapter 2 (“Of Mice and Men and Other Creatures”) considers the various bacteria, yeast, animals, and plants for which partial or complete genetic maps now exist. Readers may be surprised to learn that only 2% of the human genome codes for proteins (p. 63). The rest is regulatory, structural, (and something the author neglects to mention) functionless “junk DNA” that has accumulated through mutation and insertion by viruses over a period of billions of years. Chapter 3 (“Reading the Book of Life”) explores the Human Genome Project itself, and what it has and has not revealed. Knowing a sequence of nucleotides is only the first step in figuring out what (if anything) a given sequence does. Turning to application of genetic data to human medicine, Chapter 4 (“Genomics Applied”) considers causes and treatments of the broad family of cancerous diseases. Chapter 5 (“Genes and the Roots of Disease”) considers other diseases with genetic components (i.e., diabetes, cystic fibrosis, and Huntington’s disease).

Chapter 6, “The Genomics of Evolution” explores fascinating issues of what can be inferred from genetics about human prehistory, including our spread out of Africa throughout the globe. Much of this information has appeared elsewhere (e.g., Bryan Sykes’ Seven Daughters of Eve; Spencer Wells’ Deep Ancestry), but it is fully appropriate here. Quackenbush takes pains to rebut the potential misconception that “mitochondrial Eve” and her male counterpart were the only members of their species alive at their time. Unfortunately, he endorses a more common misconception, by asserting that mitochondrial Eve and Y- chromosome Adam “were our most recent female and male common ancestors” (p. 150). While these two persons were (by definition) our most recent female and male common ancestors by strictly matrilineal and patrilineal lines, the quote is incorrect. As work by Joseph Chang (Yale University) and others have shown, our most recent common ancestors date back only a few thousand years – notwithstanding the much greater age of our matrilineal and patrilineal ancestors. (A highly readable account of this issue can be found in Richard Dawkins’ The Devil’s Disciple.) Although The Human Genome states that “no DNA evidence suggests that humans and Neandertals interbred” (p. 151), compelling evidence of such interbreeding was published in May of 2010 – perhaps too recently to be represented in this book. The final chapter (“A Brave New Genomic World”) considers the future, touching on issues of stem cells, cloning, gene therapy, and ethical concerns.

Despite its general utility, The Human Genome contains many factual and conceptual errors. For example, to account for inheritance of maternal DNA, the text explains that “Male sperm cells do not contain mitochondria” (p. 147). In fact, sperm cells are packed with mitochondria, which provide all the energy that powers sperm locomotion. (What the author probably meant to say is that sperm mitochondria do not contribute DNA to the fertilized egg). As another example, the text states that “Mammals have been around for 510 million years” (p. 156). In actuality, mammals actually arose in the early Jurassic, about 190 million years ago.

The text attributes Charles Darwin’s revelation about natural selection to his study of the Galapagos finches on the various islands (p. 24-25; p. 139). The account is misleading, since it was actually the island mockingbirds that led Darwin to question the stability of species. As historians of science have documented, Darwin had not recognized that the “finches” were a related group of birds, and had not kept track of which island each specimen came from. Although Quackenbush credits Darwin with constructing a phylogenetic tree of the Galapagos finches (p. 139), no such phylogeny was constructed until the mid 20th century.

In considering the genomics of evolution, Quackenbush mistakenly identifies “parsimony” as “the assumption that nature makes as few changes as possible as new species evolve from old ones” (p. 139). The statement evidences significant conceptual confusion. Parsimony is a methodological principle, not an empirical statement about nature (much less, about evolution itself) (see footnote *1 below).

To illustrate the pattern of Y chromosome inheritance, the text invokes the mutineers from the HMS Bounty who settled Pitcairn Island in 1790. We are told that the island was settled by 6 mutineers and 13 native women, and that 200 years later, only three of the original male surnames remain, due to "chance events that occur when men do not have sons" (p. 145). The example is misrepresented and misinterpreted. The early Pitcairn settlers actually included 15 men, 2/3 of whom were murdered in the first few years; only one was left by 1799. What's more, the original inhabitants of Pitcairn abandoned the island in the 1850s (see footnote *1). Descendants have come and gone since that time. Clearly present- day male surnames on the island do not simply reflect random patterns of mating.

Such errors are troubling and surely should have been caught by reviewers with appropriate expertise. Astute readers may be led to wonder about the reliability of the overall work. Nevertheless, this book offers a reasonable account of the human genome and implications of the HGP in realms of science, medicine, and anthropology.

Footnotes
*1. The principle of parsimony (sometimes known as Occam’s Razor) is to make as few ad hoc assumptions as possible in making inferences and drawing conclusions. It is employed throughout the natural sciences and most human endeavors involving critical thinking. Whether a given pattern of evolutionary change has been conservative or not is an empirical question – and one that is only answerable through adoption of the methods of parsimonious analysis. In fact parsimony is what has allowed biologists to recognize innumerable cases where evolutionary change has been other than "conservative".

*2. The 1790 settlers of Pitcairn Island included 15 men (6 of whom were Polynesian), 12 women, and an infant. Through rivalries over women and ethnic conflict, 11 of the men (including all the Polynesians) had been murdered within four years (see T. Lummis’ Life and Death in Eden). By five years later, only one man was left, and only some of the deceased men had left offspring. In 1856 the island was entirely abandoned. One family returned 18 months later. Over the past 150 years, descendants of the original mutineers have come and gone from the island. Clearly the retention of male surnames among current residents of Pitcairn reflects historical events of multiple types. ( )