Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
LaDeana Hillier, Tina Graves-Lindsay, Lucinda Fulton, Robert Fulton, Patrick Minx, Kristine Wylie, Ph.D., Tracie Miner Deluca, William Nash, Colin Kremitzki, Aaron Maule, Matthew Cordes, Feiyu Du, Laura Courtney, Joelle Veizer, Edward Belter, Catrina Fronick, Scott Kruchowski, Andrew Levy, Mike McLellan, Jennifer Maher, Chad Tomlinson, Sara Kohlberg, Amy Reily, Shawn Leonard, Lee Trani, Jason Waligorski, Aye Wollam, Michael Wendl, Ph.D., Craig Pohl, Joanne Nelson, Li Ding, Ph.D., Lisa Cook, Jim Eldred, Wes Warren, Ph.D.