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

M. S. Phillips; R. Lawrence; R. Sachidanandam; A. P. Morris; D. J. Balding; M. A. Donaldson; J. F. Studebaker; W. M. Ankener; S. V. Alfisi; E. S. Kuo; A. L. Camisa; V. Pazorov; K. E. Scott; B. J. Carey; J. Faith; G. Katari; H. A. Bhatti; J. M. Cyr; V. Derohannessian; C. Elosua; A. M. Forman; N. M. Grecco; C. R. Hock; J. M. Kuebler; J. A. Lathrop; M. A. Mockler; E. P. Nachtman; S. L. Restine; S. A. Varde; M. J. Hozza; C. A. Gelfand; J. Broxholme; G. R. Abecasis; M. T. Boyce-Jacino; L. R. Cardon

doi:10.1038/ng1100

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

M. S. Phillips, R. Lawrence, R. Sachidanandam, A. P. Morris, D. J. Balding, M. A. Donaldson, J. F. Studebaker, W. M. Ankener, S. V. Alfisi, E. S. Kuo, A. L. Camisa, V. Pazorov, K. E. Scott, B. J. Carey, J. Faith, G. Katari, H. A. Bhatti, J. M. Cyr, V. Derohannessian, C. ElosuaA. M. Forman, N. M. Grecco, C. R. Hock, J. M. Kuebler, J. A. Lathrop, M. A. Mockler, E. P. Nachtman, S. L. Restine, S. A. Varde, M. J. Hozza, C. A. Gelfand, J. Broxholme, G. R. Abecasis, M. T. Boyce-Jacino, L. R. Cardon

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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 markers⁶, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density⁷, 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.

Original language	English
Pages (from-to)	382-387
Number of pages	6
Journal	Nature Genetics
Volume	33
Issue number	3
DOIs	https://doi.org/10.1038/ng1100
State	Published - 1 Mar 2003
Externally published	Yes

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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, E. S., Camisa, A. L., Pazorov, V., Scott, K. E., Carey, B. J., Faith, J., Katari, G., Bhatti, H. A., Cyr, J. M., Derohannessian, V., ... Cardon, L. R. (2003). Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nature Genetics, 33(3), 382-387. https://doi.org/10.1038/ng1100

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title = "Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots",

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 spots4,5. Using publicly available genetic markers6, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density7, 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.",

author = "Phillips, \{M. S.\} and R. Lawrence and R. Sachidanandam and Morris, \{A. P.\} and Balding, \{D. J.\} and Donaldson, \{M. A.\} and Studebaker, \{J. F.\} and Ankener, \{W. M.\} and Alfisi, \{S. V.\} and Kuo, \{E. S.\} and Camisa, \{A. L.\} and V. Pazorov and Scott, \{K. E.\} and Carey, \{B. J.\} and J. Faith and G. Katari and Bhatti, \{H. A.\} and Cyr, \{J. M.\} and V. Derohannessian and C. Elosua and Forman, \{A. M.\} and Grecco, \{N. M.\} and Hock, \{C. R.\} and Kuebler, \{J. M.\} and Lathrop, \{J. A.\} and Mockler, \{M. A.\} and Nachtman, \{E. P.\} and Restine, \{S. L.\} and Varde, \{S. A.\} and Hozza, \{M. J.\} and Gelfand, \{C. A.\} and J. Broxholme and Abecasis, \{G. R.\} and Boyce-Jacino, \{M. T.\} and Cardon, \{L. R.\}",

note = "Funding Information: The authors thank J. Marcella, J. Ball and R. Tomacelli for advice and guidance during the development of this project at Orchid. R.S. thanks the cancer center at Cold Spring Harbor Laboratory for support. R.L., A.P.M., J.B. and L.R.C. were supported by the Wellcome Trust.",

year = "2003",

month = mar,

day = "1",

doi = "10.1038/ng1100",

language = "English",

volume = "33",

pages = "382--387",

journal = "Nature Genetics",

issn = "1061-4036",

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Phillips, MS, Lawrence, R, Sachidanandam, R, Morris, AP, Balding, DJ, Donaldson, MA, Studebaker, JF, Ankener, WM, Alfisi, SV, Kuo, ES, Camisa, AL, Pazorov, V, Scott, KE, Carey, BJ, Faith, J, Katari, G, Bhatti, HA, Cyr, JM, Derohannessian, V, Elosua, C, Forman, AM, Grecco, NM, Hock, CR, Kuebler, JM, Lathrop, JA, Mockler, MA, Nachtman, EP, Restine, SL, Varde, SA, Hozza, MJ, Gelfand, CA, Broxholme, J, Abecasis, GR, Boyce-Jacino, MT & Cardon, LR 2003, 'Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots', Nature Genetics, vol. 33, no. 3, pp. 382-387. https://doi.org/10.1038/ng1100

TY - JOUR

T1 - Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

AU - Phillips, M. S.

AU - Lawrence, R.

AU - Sachidanandam, R.

AU - Morris, A. P.

AU - Balding, D. J.

AU - Donaldson, M. A.

AU - Studebaker, J. F.

AU - Ankener, W. M.

AU - Alfisi, S. V.

AU - Kuo, E. S.

AU - Camisa, A. L.

AU - Pazorov, V.

AU - Scott, K. E.

AU - Carey, B. J.

AU - Faith, J.

AU - Katari, G.

AU - Bhatti, H. A.

AU - Cyr, J. M.

AU - Derohannessian, V.

AU - Elosua, C.

AU - Forman, A. M.

AU - Grecco, N. M.

AU - Hock, C. R.

AU - Kuebler, J. M.

AU - Lathrop, J. A.

AU - Mockler, M. A.

AU - Nachtman, E. P.

AU - Restine, S. L.

AU - Varde, S. A.

AU - Hozza, M. J.

AU - Gelfand, C. A.

AU - Broxholme, J.

AU - Abecasis, G. R.

AU - Boyce-Jacino, M. T.

AU - Cardon, L. R.

N1 - Funding Information: The authors thank J. Marcella, J. Ball and R. Tomacelli for advice and guidance during the development of this project at Orchid. R.S. thanks the cancer center at Cold Spring Harbor Laboratory for support. R.L., A.P.M., J.B. and L.R.C. were supported by the Wellcome Trust.

PY - 2003/3/1

Y1 - 2003/3/1

N2 - 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 spots4,5. Using publicly available genetic markers6, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density7, 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.

AB - 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 spots4,5. Using publicly available genetic markers6, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density7, 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.

UR - https://www.scopus.com/pages/publications/0037370466

U2 - 10.1038/ng1100

DO - 10.1038/ng1100

M3 - Article

C2 - 12590262

AN - SCOPUS:0037370466

SN - 1061-4036

VL - 33

SP - 382

EP - 387

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

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

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