Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

Phillips, M. S., Lawrence, R., Sachidanandam, R., Morris, A. P., Balding, D. J., Donaldson, M. A., Studebaker, J. F., Ankener, W. M., Alfisi, S. V., Kuo, F. S., Camisa, A. L., Pazorov, V., Scott, K. E., Carey, B. J., Faith, J., Katari, G., Bhatti, H. A., Cyr, J. M., Derohannessian, V., Elosua, C., Forman, A. M., Grecco, N. M., Hock, C. R., Kuebler, J. M., Lathrop, J. A., Mockler, M. A., Nachtman, E. P., Restine, S. L., Varde, S. A., Hozza, M. J., Gelfand, C. A., Broxholme, J., Abecasis, G. R., Boyce-Jacino, M. T., Cardon, L. R. (March 2003) Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nature Genetics, 33 (3). pp. 382-387. ISSN 1061-4036

URL: http://www.ncbi.nlm.nih.gov/pubmed/12590262
DOI: 10.1038/ng1100

Abstract

Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1-3) and have discrete boundaries defined by recombination hot spots(4,5). Using publicly available genetic markers(6), we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density(7), approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blocks are inconsistent with our evolutionary models, and different mechanisms could explain their origins.

Item Type: Paper
Uncontrolled Keywords: SINGLE-NUCLEOTIDE POLYMORPHISMS GENOME SEQUENCE VARIATION LINKAGE DISEQUILIBRIUM MEIOTIC RECOMBINATION DIVERSITY COMPLEX GENES MAP
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > single nucleotide polymorphism > haplotype
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > single nucleotide polymorphism
CSHL Authors:
Communities: CSHL labs > Sachidanandam lab
Depositing User: Matt Covey
Date: March 2003
Date Deposited: 01 Jul 2013 15:51
Last Modified: 01 Jul 2013 15:51
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27887

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