Human (Homo sapiens)
H. sapiens genome facts: sequenced 2006 3.2 billion base pairs 25,000 genes ↓ general and genome resource links ↓	Da Vinci's Vitruvian Man

About Humans:

The scientific study of human beings goes back to the first curiosities we as humans had about ourselves. Understanding of human biology is, some would argue, the ultimate biological question. What makes us human? What separates us from other animals and organisms?

Unlike the other organisms highlighted in these pages, human beings are not model organisms; both practical and ethical concerns prevent many avenues of the direct study of human biology.  Fortunately, many human biological processes and functions are shared with simpler organisms, and can therefore be studied in experimentally tractable model systems. However, many questions are unanswerable by these approaches, especially those concerning human disease.

A new opportunity to study human biology directly has arisen with the sequencing of the human genome. As a move towards studying human life directly, the human genome project began in 1990 with the aim of sequencing the human genome. With the sequence in hand, and in comparison to the genomes of other organisms, the aim is to understand genetically what determines humanity. First drafts of the human genome sequence were released in 2001, and a “finished” sequence was released in 2004. The completion of the genome sequence brought with it a few surprises, and raised many questions.

The human genome contains 3.08 billion bases, and consists of 20-25,000 genes, far fewer than previously estimated. It is 98% identical to chimpanzees, and 99.9% identical within the human species. Interestingly, less than 2% of the human genome sequence encodes proteins. Of the remainder, about half consists of repeat sequences, much higher than that of other sequenced genomes (the mustard weed contains 11% repetitive sequence, the roundworm 7%, and the fruit fly 3%). The low density of genes makes their identification difficult, and begs the question of what function all the extra sequence serves.

Studies at CIG are focused on taking comparative genomics approaches towards the identification and understanding of the functional elements of the human genome, both protein coding and noncoding sequences.