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Home › Publications › The DNA sequence and biology of human chromosome 19

The DNA sequence and biology of human chromosome 19

Published in:

Nature 428(6982) , 529-535 (Apr 1 2004)

Author(s):

Grimwood, J., Gordon, L. A., Olsen, A., Terry, A., Schmutz, J., Lamerdin, J., Hellsten, U., Goodstein, D., Couronne, O., Gyamfi, M. T., Aerts, A., Altherr, M., Ashworth, L., Bajorek, E., Black, S., Branscomb, E., Caenepeel, S., Carrano, A., Caoile, C., Chan, Y. M., Christensen, M., Cleland, C. A., Copeland, A., Dalin, E., Dehal, P., Denys, M., Detter, J. C., Escobar, J., Flowers, D., Fotopulos, D., Garcia, C., Georgescu, A. M., Glavina, T., Gomez, M., Gonzales, E., Groza, M., Hammon, N., Hawkins, T., Haydu, L., Ho, I., Huang, W., Israni, S., Jett, J., Kadner, K., Kimball, H., Kobayashi, A., Larionov, V., Leem, S. H., Lopez, F., Lou, Y. L., Lowry, S., Malfatti, S., Martinez, D., McCready, P., Medina, C., Morgan, J., Nelson, K., Nolan, M., Ovcharenko, I., Pitluck, S., Pollard, M., Popkie, A. P., Predki, P., Quan, G., Ramirez, L., Rash, S., Retterer, J., Rodriguez, A., Rogers, S., Salamov, A., Salazar, A., She, X. W., Smith, D., Slezak, T., Solovyev, V., Thayer, N., Tice, H., Tsai, M., Ustaszewska, A., Vo, N., Wagner, M., Wheeler, J., Wu, K., Xie, G., Yang, J., Dubchak, I., Furey, T. S., DeJong, P., Dickson, M., Gordon, D., Eichler, E. E., Pennacchio, L. A., Richardson, P., Stubbs, L., Rokhsar, D. S., Myers, R. M., Rubin, E. M., Lucas, S. M.

DOI:

Doi 10.1038/Nature02399

Abstract:

Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G+C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.

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