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The DNA sequence and comparative analysis of human chromosome 5

Published in:

Nature 431(7006) , 268-74 (Sep 16 2004)

Author(s):

Schmutz, J., Martin, J., Terry, A., Couronne, O., Grimwood, J., Lowry, S., Gordon, L. A., Scott, D., Xie, G., Huang, W., Hellsten, U., Tran-Gyamfi, M., She, X., Prabhakar, S., Aerts, A., Altherr, M., Bajorek, E., Black, S., Branscomb, E., Caoile, C., Challacombe, J. F., Chan, Y. M., Denys, M., Detter, J. C., Escobar, J., Flowers, D., Fotopulos, D., Glavina, T., Gomez, M., Gonzales, E., Goodstein, D., Grigoriev, I., Groza, M., Hammon, N., Hawkins, T., Haydu, L., Israni, S., Jett, J., Kadner, K., Kimball, H., Kobayashi, A., Lopez, F., Lou, Y., Martinez, D., Medina, C., Morgan, J., Nandkeshwar, R., Noonan, J. P., Pitluck, S., Pollard, M., Predki, P., Priest, J., Ramirez, L., Retterer, J., Rodriguez, A., Rogers, S., Salamov, A., Salazar, A., Thayer, N., Tice, H., Tsai, M., Ustaszewska, A., Vo, N., Wheeler, J., Wu, K., Yang, J., Dickson, M., Cheng, J. F., Eichler, E. E., Olsen, A., Pennacchio, L. A., Rokhsar, D. S., Richardson, P., Lucas, S. M., Myers, R. M., Rubin, E. M.

DOI:

10.1038/nature02919

Abstract:

Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.

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