Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

Brendan J. Loftus; Ung Jin Kim; Victoria P. Sneddon; Francis Kalush; Rhonda Brandon; Joyce Fuhrmann; Tanya Mason; Marie L. Crosby; Mary Barnstead; Lisa Cronin; Anne Deslattes Mays; Yicheng Cao; Robert X. Xu; Hyung Lyun Kang; Steve Mitchell; Evan E. Eichler; Peter C. Harris; J. Craig Venter; Mark D. Adams

doi:10.1006/geno.1999.5927

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

Brendan J. Loftus, Ung Jin Kim, Victoria P. Sneddon, Francis Kalush, Rhonda Brandon, Joyce Fuhrmann, Tanya Mason, Marie L. Crosby, Mary Barnstead, Lisa Cronin, Anne Deslattes Mays, Yicheng Cao, Robert X. Xu, Hyung Lyun Kang, Steve Mitchell, Evan E. Eichler, Peter C. Harris, J. Craig Venter, Mark D. Adams

Nephrology and Hypertension

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Abstract

Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.

Original language	English (US)
Pages (from-to)	295-308
Number of pages	14
Journal	Genomics
Volume	60
Issue number	3
DOIs	https://doi.org/10.1006/geno.1999.5927
State	Published - Sep 15 1999

ASJC Scopus subject areas

Genetics

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Loftus, B. J., Kim, U. J., Sneddon, V. P., Kalush, F., Brandon, R., Fuhrmann, J., Mason, T., Crosby, M. L., Barnstead, M., Cronin, L., Deslattes Mays, A., Cao, Y., Xu, R. X., Kang, H. L., Mitchell, S., Eichler, E. E., Harris, P. C., Venter, J. C., & Adams, M. D. (1999). Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics, 60(3), 295-308. https://doi.org/10.1006/geno.1999.5927

Loftus, BJ, Kim, UJ, Sneddon, VP, Kalush, F, Brandon, R, Fuhrmann, J, Mason, T, Crosby, ML, Barnstead, M, Cronin, L, Deslattes Mays, A, Cao, Y, Xu, RX, Kang, HL, Mitchell, S, Eichler, EE, Harris, PC, Venter, JC & Adams, MD 1999, 'Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q', Genomics, vol. 60, no. 3, pp. 295-308. https://doi.org/10.1006/geno.1999.5927

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title = "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q",

abstract = "Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.",

author = "Loftus, {Brendan J.} and Kim, {Ung Jin} and Sneddon, {Victoria P.} and Francis Kalush and Rhonda Brandon and Joyce Fuhrmann and Tanya Mason and Crosby, {Marie L.} and Mary Barnstead and Lisa Cronin and {Deslattes Mays}, Anne and Yicheng Cao and Xu, {Robert X.} and Kang, {Hyung Lyun} and Steve Mitchell and Eichler, {Evan E.} and Harris, {Peter C.} and Venter, {J. Craig} and Adams, {Mark D.}",

note = "Funding Information: We are grateful for the excellent sequencing and finishing work provided by many members of the TIGR Sequencing Core Facility; we are grateful to Norman Doggett for providing the initial map information and to Lizin Zhou, Xiaoying Lin, and Steve Rounsley for discussions on issues of annotation. This work was supported by Grant R01-HG01464 from NHGRI to M.D.A.",

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doi = "10.1006/geno.1999.5927",

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AU - Loftus, Brendan J.

AU - Kim, Ung Jin

AU - Sneddon, Victoria P.

AU - Kalush, Francis

AU - Brandon, Rhonda

AU - Fuhrmann, Joyce

AU - Mason, Tanya

AU - Crosby, Marie L.

AU - Barnstead, Mary

AU - Cronin, Lisa

AU - Deslattes Mays, Anne

AU - Cao, Yicheng

AU - Xu, Robert X.

AU - Kang, Hyung Lyun

AU - Mitchell, Steve

AU - Eichler, Evan E.

AU - Harris, Peter C.

AU - Venter, J. Craig

AU - Adams, Mark D.

N1 - Funding Information: We are grateful for the excellent sequencing and finishing work provided by many members of the TIGR Sequencing Core Facility; we are grateful to Norman Doggett for providing the initial map information and to Lizin Zhou, Xiaoying Lin, and Steve Rounsley for discussions on issues of annotation. This work was supported by Grant R01-HG01464 from NHGRI to M.D.A.

PY - 1999/9/15

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N2 - Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.

AB - Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.

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Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

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