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1. The DNA sequence and comparative analysis of human chromosome 10

Author

P, Deloukas, M E, Earthrowl, D V, Grafham, M, Rubenfield, L, French, C A, Steward, S K, Sims, M C, Jones, S, Searle, C, Scott, K, Howe, S E, Hunt, T D, Andrews, J G R, Gilbert, D, Swarbreck, J L, Ashurst, A, Taylor, J, Battles, C P, Bird, R, Ainscough, J P, Almeida, R I S, Ashwell, K D, Ambrose, A K, Babbage, C L, Bagguley, J, Bailey, R, Banerjee, K, Bates, H, Beasley, S, Bray-Allen, A J, Brown, J Y, Brown, D C, Burford, W, Burrill, J, Burton, P, Cahill, D, Camire, N P, Carter, J C, Chapman, S Y, Clark, G, Clarke, C M, Clee, S, Clegg, N, Corby, A, Coulson, P, Dhami, I, Dutta, M, Dunn, L, Faulkner, A, Frankish, J A, Frankland, P, Garner, J, Garnett, S, Gribble, C, Griffiths, R, Grocock, E, Gustafson, S, Hammond, J L, Harley, E, Hart, P D, Heath, T P, Ho, B, Hopkins, J, Horne, P J, Howden, E, Huckle, C, Hynds, C, Johnson, D, Johnson, A, Kana, M, Kay, A M, Kimberley, J K, Kershaw, M, Kokkinaki, G K, Laird, S, Lawlor, H M, Lee, D A, Leongamornlert, G, Laird, C, Lloyd, D M, Lloyd, J, Loveland, J, Lovell, S, McLaren, K E, McLay, A, McMurray, M, Mashreghi-Mohammadi, L, Matthews, S, Milne, T, Nickerson, M, Nguyen, E, Overton-Larty, S A, Palmer, A V, Pearce, A I, Peck, S, Pelan, B, Phillimore, K, Porter, C M, Rice, A, Rogosin, M T, Ross, T, Sarafidou, H K, Sehra, R, Shownkeen, C D, Skuce, M, Smith, L, Standring, N, Sycamore, J, Tester, A, Thorpe, W, Torcasso, A, Tracey, A, Tromans, J, Tsolas, M, Wall, J, Walsh, H, Wang, K, Weinstock, A P, West, D L, Willey, S L, Whitehead, L, Wilming, P W, Wray, L, Young, Y, Chen, R C, Lovering, N K, Moschonas, R, Siebert, K, Fechtel, D, Bentley, R, Durbin, T, Hubbard, L, Doucette-Stamm, S, Beck, D R, Smith, and J, Rogers

Subjects
Base Composition, Multidisciplinary, Pan troglodytes, Chromosomes, Human, Pair 10, Genetics, Medical, Genetic Variation, Proteins, Exons, Genomics, Sequence Analysis, DNA, Physical Chromosome Mapping, Evolution, Molecular, Contig Mapping, Genes, Gene Duplication, Animals, Humans, CpG Islands, Pseudogenes
Abstract

The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. Sequence annotation revealed 1,357 genes, of which 816 are protein coding, and 430 are pseudogenes. We observed widespread occurrence of overlapping coding genes (either strand) and identified 67 antisense transcripts. Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. Multispecies comparative analysis indicated that we can readily annotate the protein-coding genes with current resources. We estimate that over 95% of all coding exons were identified in this study. Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence.

Published
2004
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2. The DNA sequence and analysis of human chromosome 13

Author

A, Dunham, L H, Matthews, J, Burton, J L, Ashurst, K L, Howe, K J, Ashcroft, D M, Beare, D C, Burford, S E, Hunt, S, Griffiths-Jones, M C, Jones, S J, Keenan, K, Oliver, C E, Scott, R, Ainscough, J P, Almeida, K D, Ambrose, D T, Andrews, R I S, Ashwell, A K, Babbage, C L, Bagguley, J, Bailey, R, Bannerjee, K F, Barlow, K, Bates, H, Beasley, C P, Bird, S, Bray-Allen, A J, Brown, J Y, Brown, W, Burrill, C, Carder, N P, Carter, J C, Chapman, M E, Clamp, S Y, Clark, G, Clarke, C M, Clee, S C M, Clegg, V, Cobley, J E, Collins, N, Corby, G J, Coville, P, Deloukas, P, Dhami, I, Dunham, M, Dunn, M E, Earthrowl, A G, Ellington, L, Faulkner, A G, Frankish, J, Frankland, L, French, P, Garner, J, Garnett, J G R, Gilbert, C J, Gilson, J, Ghori, D V, Grafham, S M, Gribble, C, Griffiths, R E, Hall, S, Hammond, J L, Harley, E A, Hart, P D, Heath, P J, Howden, E J, Huckle, P J, Hunt, A R, Hunt, C, Johnson, D, Johnson, M, Kay, A M, Kimberley, A, King, G K, Laird, C J, Langford, S, Lawlor, D A, Leongamornlert, D M, Lloyd, C, Lloyd, J E, Loveland, J, Lovell, S, Martin, M, Mashreghi-Mohammadi, S J, McLaren, A, McMurray, S, Milne, M J F, Moore, T, Nickerson, S A, Palmer, A V, Pearce, A I, Peck, S, Pelan, B, Phillimore, K M, Porter, C M, Rice, S, Searle, H K, Sehra, R, Shownkeen, C D, Skuce, M, Smith, C A, Steward, N, Sycamore, J, Tester, D W, Thomas, A, Tracey, A, Tromans, B, Tubby, M, Wall, J M, Wallis, A P, West, S L, Whitehead, D L, Willey, L, Wilming, P W, Wray, M W, Wright, L, Young, A, Coulson, R, Durbin, T, Hubbard, J E, Sulston, S, Beck, D R, Bentley, J, Rogers, and M T, Ross

Subjects
RNA, Untranslated, Multidisciplinary, Chromosomes, Human, Pair 13, Genes, Genetics, Medical, Chromosome Mapping, Humans, Sequence Analysis, DNA, Physical Chromosome Mapping, Pseudogenes, Article
Abstract

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.

Published
2004
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3. The DNA sequence and biological annotation of human chromosome 1

Author

S G, Gregory, K F, Barlow, K E, McLay, R, Kaul, D, Swarbreck, A, Dunham, C E, Scott, K L, Howe, K, Woodfine, C C A, Spencer, M C, Jones, C, Gillson, S, Searle, Y, Zhou, F, Kokocinski, L, McDonald, R, Evans, K, Phillips, A, Atkinson, R, Cooper, C, Jones, R E, Hall, T D, Andrews, C, Lloyd, R, Ainscough, J P, Almeida, K D, Ambrose, F, Anderson, R W, Andrew, R I S, Ashwell, K, Aubin, A K, Babbage, C L, Bagguley, J, Bailey, H, Beasley, G, Bethel, C P, Bird, S, Bray-Allen, J Y, Brown, A J, Brown, D, Buckley, J, Burton, J, Bye, C, Carder, J C, Chapman, S Y, Clark, G, Clarke, C, Clee, V, Cobley, R E, Collier, N, Corby, G J, Coville, J, Davies, R, Deadman, M, Dunn, M, Earthrowl, A G, Ellington, H, Errington, A, Frankish, J, Frankland, L, French, P, Garner, J, Garnett, L, Gay, M R J, Ghori, R, Gibson, L M, Gilby, W, Gillett, R J, Glithero, D V, Grafham, C, Griffiths, S, Griffiths-Jones, R, Grocock, S, Hammond, E S I, Harrison, E, Hart, E, Haugen, P D, Heath, S, Holmes, K, Holt, P J, Howden, A R, Hunt, S E, Hunt, G, Hunter, J, Isherwood, R, James, C, Johnson, D, Johnson, A, Joy, M, Kay, J K, Kershaw, M, Kibukawa, A M, Kimberley, A, King, A J, Knights, H, Lad, G, Laird, S, Lawlor, D A, Leongamornlert, D M, Lloyd, J, Loveland, J, Lovell, M J, Lush, R, Lyne, S, Martin, M, Mashreghi-Mohammadi, L, Matthews, N S W, Matthews, S, McLaren, S, Milne, S, Mistry, M J F, Moore, T, Nickerson, C N, O'Dell, K, Oliver, A, Palmeiri, S A, Palmer, A, Parker, D, Patel, A V, Pearce, A I, Peck, S, Pelan, K, Phelps, B J, Phillimore, R, Plumb, J, Rajan, C, Raymond, G, Rouse, C, Saenphimmachak, H K, Sehra, E, Sheridan, R, Shownkeen, S, Sims, C D, Skuce, M, Smith, C, Steward, S, Subramanian, N, Sycamore, A, Tracey, A, Tromans, Z, Van Helmond, M, Wall, J M, Wallis, S, White, S L, Whitehead, J E, Wilkinson, D L, Willey, H, Williams, L, Wilming, P W, Wray, Z, Wu, A, Coulson, M, Vaudin, J E, Sulston, R, Durbin, T, Hubbard, R, Wooster, I, Dunham, N P, Carter, G, McVean, M T, Ross, J, Harrow, M V, Olson, S, Beck, J, Rogers, D R, Bentley, R, Banerjee, S P, Bryant, D C, Burford, W D H, Burrill, S M, Clegg, P, Dhami, O, Dovey, L M, Faulkner, S M, Gribble, C F, Langford, R D, Pandian, K M, Porter, and E, Prigmore

Subjects
Sequence analysis, DNA Replication Timing, Molecular Sequence Data, Locus (genetics), Biology, Structural variation, Open Reading Frames, Chromosome 19, Gene Duplication, Humans, Disease, Selection, Genetic, Genetics, Recombination, Genetic, Multidisciplinary, Gene map, Base Sequence, Genetic Variation, Genome project, Genomics, Sequence Analysis, DNA, Genes, Chromosomes, Human, Pair 1, Human genome, Chromosome 21, Pseudogenes
Abstract

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Published
2005

4. The DNA sequence and comparative analysis of human chromosome 20

Author

G Clarke, L M Faulkner, Jane E. Loveland, J Walsh, Kirsten McLay, G Laird, A K Babbage, J C Chapman, Sophie Palmer, C Hynds, M Earthrowl, T D Andrews, J Battles, Theologia Sarafidou, S. M. Clegg, Christine P. Bird, T P Ho, Sarah Pelan, A M Kimberley, Anthony P. West, E. Hart, Russell J. Grocock, Carol Scott, Stuart McLaren, J Lovell, M Kokkinaki, J K Kershaw, Sarah Milne, Christine Lloyd, D. M. Lloyd, R I S Ashwell, L Standring, Amanda McMurray, John Burton, A Rogosin, Yuan Chen, D Camire, Gavin K. Laird, Nigel P. Carter, David Willey, Nicholas K. Moschonas, Stephan Beck, Ruth C. Lovering, Mark T. Ross, Adam Frankish, S Lawlor, Laurens G. Wilming, I Dutta, David Bentley, Joanna Harley, R Ainscough, Matthew Jones, Susan M. Gribble, C. D. Skuce, A Thorpe, Pawandeep Dhami, L Young, Melanie M. Wall, Erik Gustafson, David Swarbreck, Douglas Smith, J Frankland, S Y Clark, C M Clee, Lucy Matthews, S Bray-Allen, A Taylor, W Burrill, Lynn Doucette-Stamm, S. Searle, Alan Tracey, J Tester, Panos Deloukas, Daniel Leongamornlert, T Nickerson, David W. Johnson, Philip Howden, Paul Wray, M. Kay, Catherine M. Rice, A Kana, H M Lee, Keith Weinstock, Kim Fechtel, Sarah E. Hunt, A I Peck, S. Whitehead, H Wang, N Sycamore, Patrick Cahill, J Bailey, Alan Coulson, E K Overton-Larty, J Y Brown, Jennifer L. Ashurst, A. V. Pearce, M Mashreghi-Mohammadi, C L Bagguley, P Garner, A J Brown, Benjamin Phillimore, W Torcasso, S Hammond, M Nguyen, J Horne, K Bates, J P Almeida, N Corby, Matthew Dunn, Darren Grafham, Ratna Shownkeen, D C Burford, A Tromans, Jane Rogers, J Garnett, Harminder Sehra, Kerstin Howe, K D Ambrose, James G. R. Gilbert, Helen Beasley, Reiner Siebert, Charles A. Steward, Chris Johnson, K M Porter, Ruby Banerjee, Marc Rubenfield, Sarah Sims, Lisa French, Paul Heath, Elizabeth J. Huckle, B Hopkins, C Griffiths, Richard Durbin, J Tsolas, Michelle Smith, and Tim Hubbard

Subjects
Genetics, Multidisciplinary, Base Sequence, Proteome, Sequence analysis, Pseudogene, Physical Chromosome Mapping, Chromosomes, Human, Pair 20, Genetic Diseases, Inborn, Computational Biology, Genetic Variation, Locus (genetics), DNA, Sequence Analysis, DNA, Biology, Contig Mapping, Mice, Gene duplication, Animals, Humans, Human genome, Chromosome 20, Segmental duplication
Abstract

The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 5' and a 3' untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.

Published
2002

5. Erratum: The DNA sequence and biological annotation of human chromosome 1

Author

S. G. Gregory, K. F. Barlow, K. E. McLay, R. Kaul, D. Swarbreck, A. Dunham, C. E. Scott, K. L. Howe, K. Woodfine, C. C. A. Spencer, M. C. Jones, C. Gillson, S. Searle, Y. Zhou, F. Kokocinski, L. McDonald, R. Evans, K. Phillips, A. Atkinson, R. Cooper, C. Jones, R. E. Hall, T. D. Andrews, C. Lloyd, R. Ainscough, J. P. Almeida, K. D. Ambrose, F. Anderson, R. W. Andrew, R. I. S. Ashwell, K. Aubin, A. K. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, H. Beasley, G. Bethel, C. P. Bird, S. Bray-Allen, J. Y. Brown, A. J. Brown, S. P. Bryant, D. Buckley, D. C. Burford, W. D. H. Burrill, J. Burton, J. Bye, C. Carder, J. C. Chapman, S. Y. Clark, G. Clarke, C. Clee, S. M. Clegg, V. Cobley, R. E. Collier, N. Corby, G. J. Coville, J. Davies, R. Deadman, P. Dhami, O. Dovey, M. Dunn, M. Earthrowl, A. G. Ellington, H. Errington, L. M. Faulkner, A. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, L. Gay, M. R. J. Ghori, R. Gibson, L. M. Gilby, W. Gillett, R. J. Glithero, D. V. Grafham, S. M. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, S. Hammond, E. S. I. Harrison, E. Hart, E. Haugen, P. D. Heath, S. Holmes, K. Holt, P. J. Howden, A. R. Hunt, S. E. Hunt, G. Hunter, J. Isherwood, R. James, C. Johnson, D. Johnson, A. Joy, M. Kay, J. K. Kershaw, M. Kibukawa, A. M. Kimberley, A. King, A. J. Knights, H. Lad, G. Laird, C. F. Langford, S. Lawlor, D. A. Leongamornlert, D. M. Lloyd, J. Loveland, J. Lovell, M. J. Lush, R. Lyne, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, N. S. W. Matthews, S. McLaren, S. Milne, S. Mistry, M. J. F. M. oore, T. Nickerson, C. N. O'Dell, K. Oliver, A. Palmeiri, S. A. Palmer, R. D. Pandian, A. Parker, D. Patel, A. V. Pearce, A. I. Peck, S. Pelan, K. Phelps, B. J. Phillimore, R. Plumb, K. M. Porter, E. Prigmore, J. Rajan, C. Raymond, G. Rouse, C. Saenphimmachak, H. K. Sehra, E. Sheridan, R. Shownkeen, S. Sims, C. D. Skuce, M. Smith, C. Steward, S. Subramanian, N. Sycamore, A. Tracey, A. Tromans, Z. Van Helmond, M. Wall J. M. Wallis, S. White, S. L. Whitehead, J. E. Wilkinson, D. L. Willey, H. Williams, L. Wilming, P. W. Wray, Z. Wu, A. Coulson, M. Vaudin, J. E. Sulston, R. Durbin, T. Hubbard, R. Wooster, I. Dunham, N. P. Carter, G. McVean, M. T. Ross, J. Harrow, M. V. Olson, S. Beck, J. Rogers, and D. R. Bentley

Subjects
Genetics, Annotation, Multidisciplinary, Chromosome (genetic algorithm), Gribble, Biology, biology.organism_classification, DNA sequencing
Abstract

Nature 441, 315–321 (2006) We inadvertently omitted the names of the following authors: R. Banerjee, S. P. Bryant, D. C. Burford, W. D. H. Burrill, S. M. Clegg, P. Dhami, O. Dovey, L. M. Faulkner, S. M. Gribble, C. F. Langford, R. D. Pandian, K. M. Porter and E. Prigmore.

Published
2006
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6. Opiate inhibition of peptide release from the neurohumoral terminals of hypothalamic neurones

Author

Dennis W. Lincoln, G. Clarke, Lynda P. Merrick, and Pat Wood

Subjects
medicine.medical_specialty, Hypothalamus, Peptide, Oxytocin, Pregnancy, Internal medicine, Hydrostatic Pressure, medicine, Animals, Lactation, Nerve Endings, chemistry.chemical_classification, Multidisciplinary, Morphine, Naloxone, Chemistry, Neurosecretory Systems, Electric Stimulation, Rats, Endocrinology, nervous system, Carbachol, Female, Endorphins, Opiate, Supraoptic Nucleus
Abstract

Opiate inhibition of peptide release from the neurohumoral terminals of hypothalamic neurones

Published
1979
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7. Mystery object amid the chromosomes

Author

M. Crocker, John Wolstenholme, Hilary Sheridan, Jon Jonasson, G. Clarke, Helen Matthews, and Ian Harlow

Subjects
Multidisciplinary, Computer science, business.industry, Karyotyping, Humans, Karyotype, Computer vision, Artificial intelligence, Object (computer science), business
Published
1986

8. Acenaphthene derivatives and c-mitosis

Author

J. G. Clarke and W. G. H. Edwards

Subjects
Multidisciplinary, Chemistry, Stereochemistry, Acenaphthenes, Substituent, Acenaphthene, Mitosis, Naphthalenes, Plants, Plant cell, C mitosis, chemistry.chemical_compound, medicine.anatomical_structure, medicine, Colchicine, Nucleus, Cell Division
Abstract

THE effect of acenaphthene (I, R = H) on plant cells, producing mitotic abnormalities, has been known for many years1,2. It appears to have an effect similar to that of colchicine, but requiring very low concentrations of material. Introduction of substituents into the acenaphthene nucleus may modify the activity. Schmuck et al.3 found that compounds such as 5-bromoacenaphthene (I, R = Br) and 5-chloroacenaphthene (I, R = Cl) were also active, but when the substituent was a hydrophilic group, as in 5-carboxy acenaphthene (I, R = COOH), the antimitotic activity disappeared. Similar observations were made when bridge-substituted acenaphthenes were studied; 1 : 2 dihydroxyacenaphthene (II), for example, is inactive.

Published
1962

9. Effects of maternal preimmunization on the decidual cell reaction in mice

Author

C. M. Hetherington and Ann G. Clarke

Subjects
Pregnancy, Maternal-fetal exchange, Multidisciplinary, Erythrocytes, Biology, medicine.disease, Transplantation, Mice, Antigen, Species Specificity, Immunology, Antibody Formation, medicine, Immunogenetics, Conceptus, Animals, Decidual cells, Female, Immunization, Decidual tissue, Maternal-Fetal Exchange, Antibody formation
Abstract

ALTHOUGH several hypotheses have been put forward to explain the success of the mammalian conceptus as a homograft1, there is still no agreement on the exact mechanisms involved. It has been postulated that during the early stages of pregnancy the uterine decidual tissue prevents the immunological consequences of antigenic differences between mother and conceptus2. Recent evidence has suggested that the extent of the decidual cell reaction is reduced when there are genetic differences between mother and offspring3. We have therefore investigated whether the decidual cell reaction is affected by preimmunization of the mother to paternal antigens.

Published
1971

11. Laws and Customs in Central Africa

Author

Louis C. G. Clarke

Subjects
Multidisciplinary, History, White (horse), Notice, media_common.quotation_subject, Yoruba, Central africa, Canon, Protectorate, language.human_language, Pleasure, Law, language, Tourism, media_common
Abstract

THE authors of the three books under notice approach their subjects from three entirely different points of view. Mr. Ajisafe is a Yoruba native who puts forward a treatise upon the laws and customs of his own people: Canon Roscoe and Mr. Norden write as foreigners visiting Africa, but, again, their points of view differ. Canon Roscoe is a trained ethnologist; his expedition was organised for the purpose of obtaining information useful to anthropological science. Mr. Norden writes as a tourist, relating the experiences of a pleasure trip in Kenya and Uganda. (1) The Laws and Customs of the Yoruba People. By A. K. Ajisafe. Pp. vi + 97. (London: G. Routledge and Sons, Ltd.; Lagos: C.M.S. Bookshop, 1924.) 3s. 6d. net. (2) The Bagesu and Other Tribes of the Uganda Protectorate: the Third Part of the Report of the Mackie Ethnological Expedition to Central Africa. By the Rev. Canon John Roscoe. Pp. xiv + 205 + 32 plates. (Cambridge: At the University Press, 1924.) 20s. net. (3) White and Black in East Africa: a Record of Travel and Observation in two African Crown Colonies. By Hermann Norden. Pp. 304 + 18 plates. (London: H. F. and G. Witherby, 1924.) 15s. net.

Published
1924
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12. Occurrence of 3-Indolylacetic and 3-Indolecarboxylic Acids in Tomato Crown—Gall Tissue Extracts

Author

M. H. Dye, R. L. Wain, and G. Clarke

Subjects
chemistry.chemical_classification, Multidisciplinary, biology, fungi, Crown (botany), food and beverages, Ether, Agrobacterium tumefaciens, biology.organism_classification, Tumour tissue, Paper chromatography, chemistry.chemical_compound, chemistry, Auxin, Tissue extracts, Botany, Gall
Abstract

A NUMBER of publications1 report high auxin activity in extracts of tumour tissue initiated by the crown-gall organism, Agrobacterium tumefaciens, and indirect evidence indicates a high rate of auxin metabolism in this tissue2. Suggestions have been made that 3-indolylacetic acid is involved, although this has not been proved. There is evidence that auxin activity occurs at the same or a similar R F as 3-indolylacetic acid on one-dimensional chromatograms and other investigations indicate that 3-indolylacetic acid or “an auxin with same R F” is present in extracts of aseptically cultured gall tissue of tobacco and sunflower3. We have carried out single and two-dimensional paper chromatography with the acid fraction from ether extracts of large quantities of tomato crown-gall tissue grown on the stems of whole plants to determine whether 3-indolylacetic acid is in fact present.

Published
1959
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13. Detection of Trace Quantities of Acenaphthene by Gas Chromatography

Author

A. G. Williamson, W. G. H. Edwards, and J. G. Clarke

Subjects
Multidisciplinary, Chemistry, Helium ionization detector, Acenaphthene, Analytical chemistry, law.invention, Electron capture detector, chemistry.chemical_compound, Chromatography detector, law, Pulsed discharge ionization detector, Flame ionization detector, Gas chromatography, Gas chromatography ion detector
Abstract

IN the course of investigations into the c-mitotic effect we wished to determine the acenaphthene uptake in the root tips of onions grown in a saturated water solution of acenaphthene. As the quantities expected were of the order of μ, the very sensitive flame ionization detector described by McWilliam and Dewar1 was used. A 6-in. long -in. bore column packed with 60–80 mesh brick dust carrying 15 per cent w/w silicone oil was used for the analysis, and pure hydrogen was used as the carrier gas.

Published
1961
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14. A second generation human haplotype map of over 3.1 million SNPs.

Author

Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, and Stewart J

Subjects
Female, Homozygote, Humans, Linkage Disequilibrium genetics, Male, Racial Groups genetics, Recombination, Genetic genetics, Selection, Genetic, Haplotypes genetics, Polymorphism, Single Nucleotide genetics
Abstract

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.

Published
2007
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15. Genome-wide detection and characterization of positive selection in human populations.

Author

Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, and Stewart J

Subjects
Antiporters genetics, Edar Receptor chemistry, Edar Receptor genetics, Gene Frequency, Genetics, Population, Geography, Haplotypes genetics, Humans, Models, Molecular, Polymorphism, Single Nucleotide genetics, Protein Structure, Tertiary, Genome, Human genetics, Selection, Genetic
Abstract

With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.

Published
2007
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16. The DNA sequence and biological annotation of human chromosome 1.

Author

Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, and Prigmore E

Subjects
Base Sequence, DNA Replication Timing, Disease, Gene Duplication, Genes genetics, Genetic Variation genetics, Genomics, Humans, Molecular Sequence Data, Open Reading Frames genetics, Pseudogenes genetics, Recombination, Genetic genetics, Selection, Genetic, Sequence Analysis, DNA, Chromosomes, Human, Pair 1 genetics
Abstract

The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

Published
2006
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17. Crustal rheology of the Himalaya and Southern Tibet inferred from magnetotelluric data.

Author

Unsworth MJ, Jones AG, Wei W, Marquis G, Gokarn SG, Spratt JE, Bedrosian P, Booker J, Leshou C, Clarke G, Shenghui L, Chanhong L, Ming D, Sheng J, Solon K, Handong T, Ledo J, and Roberts B

Abstract

The Cenozoic collision between the Indian and Asian continents formed the Tibetan plateau, beginning about 70 million years ago. Since this time, at least 1,400 km of convergence has been accommodated by a combination of underthrusting of Indian and Asian lithosphere, crustal shortening, horizontal extrusion and lithospheric delamination. Rocks exposed in the Himalaya show evidence of crustal melting and are thought to have been exhumed by rapid erosion and climatically forced crustal flow. Magnetotelluric data can be used to image subsurface electrical resistivity, a parameter sensitive to the presence of interconnected fluids in the host rock matrix, even at low volume fractions. Here we present magnetotelluric data from the Tibetan-Himalayan orogen from 77 degrees E to 92 degrees E, which show that low resistivity, interpreted as a partially molten layer, is present along at least 1,000 km of the southern margin of the Tibetan plateau. The inferred low viscosity of this layer is consistent with the development of climatically forced crustal flow in Southern Tibet.

Published
2005
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18. The DNA sequence of the human X chromosome.

Author

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, and Bentley DR

Subjects
Animals, Antigens, Neoplasm genetics, Centromere genetics, Chromosomes, Human, Y genetics, Contig Mapping, Crossing Over, Genetic genetics, Dosage Compensation, Genetic, Female, Genetic Linkage genetics, Genetics, Medical, Humans, Male, Polymorphism, Single Nucleotide genetics, RNA genetics, Repetitive Sequences, Nucleic Acid genetics, Sequence Homology, Nucleic Acid, Testis metabolism, Chromosomes, Human, X genetics, Evolution, Molecular, Genomics, Sequence Analysis, DNA
Abstract

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

Published
2005
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19. DNA sequence and analysis of human chromosome 9.

Author

Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blöcker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, and Dunham I

Subjects
Base Composition, Euchromatin genetics, Evolution, Molecular, Female, Gene Duplication, Genes, Duplicate genetics, Genetic Variation genetics, Genetics, Medical, Genomics, Heterochromatin genetics, Humans, Male, Neoplasms genetics, Neurodegenerative Diseases genetics, Pseudogenes genetics, Sequence Analysis, DNA, Sex Determination Processes, Chromosomes, Human, Pair 9 genetics, Genes, Physical Chromosome Mapping
Abstract

Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

Published
2004
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20. The DNA sequence and comparative analysis of human chromosome 10.

Author

Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L, Steward CA, Sims SK, Jones MC, Searle S, Scott C, Howe K, Hunt SE, Andrews TD, Gilbert JG, Swarbreck D, Ashurst JL, Taylor A, Battles J, Bird CP, Ainscough R, Almeida JP, Ashwell RI, Ambrose KD, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Bates K, Beasley H, Bray-Allen S, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Cahill P, Camire D, Carter NP, Chapman JC, Clark SY, Clarke G, Clee CM, Clegg S, Corby N, Coulson A, Dhami P, Dutta I, Dunn M, Faulkner L, Frankish A, Frankland JA, Garner P, Garnett J, Gribble S, Griffiths C, Grocock R, Gustafson E, Hammond S, Harley JL, Hart E, Heath PD, Ho TP, Hopkins B, Horne J, Howden PJ, Huckle E, Hynds C, Johnson C, Johnson D, Kana A, Kay M, Kimberley AM, Kershaw JK, Kokkinaki M, Laird GK, Lawlor S, Lee HM, Leongamornlert DA, Laird G, Lloyd C, Lloyd DM, Loveland J, Lovell J, McLaren S, McLay KE, McMurray A, Mashreghi-Mohammadi M, Matthews L, Milne S, Nickerson T, Nguyen M, Overton-Larty E, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter K, Rice CM, Rogosin A, Ross MT, Sarafidou T, Sehra HK, Shownkeen R, Skuce CD, Smith M, Standring L, Sycamore N, Tester J, Thorpe A, Torcasso W, Tracey A, Tromans A, Tsolas J, Wall M, Walsh J, Wang H, Weinstock K, West AP, Willey DL, Whitehead SL, Wilming L, Wray PW, Young L, Chen Y, Lovering RC, Moschonas NK, Siebert R, Fechtel K, Bentley D, Durbin R, Hubbard T, Doucette-Stamm L, Beck S, Smith DR, and Rogers J

Subjects
Animals, Base Composition, Contig Mapping, CpG Islands genetics, Evolution, Molecular, Exons genetics, Gene Duplication, Genetic Variation genetics, Genetics, Medical, Genomics, Humans, Pan troglodytes genetics, Proteins genetics, Pseudogenes genetics, Sequence Analysis, DNA, Chromosomes, Human, Pair 10 genetics, Genes, Physical Chromosome Mapping
Abstract

The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heterochromatic sequence within the pericentromeric region of the short and long arm of the chromosome. Sequence annotation revealed 1,357 genes, of which 816 are protein coding, and 430 are pseudogenes. We observed widespread occurrence of overlapping coding genes (either strand) and identified 67 antisense transcripts. Our analysis suggests that both inter- and intrachromosomal segmental duplications have impacted on the gene count on chromosome 10. Multispecies comparative analysis indicated that we can readily annotate the protein-coding genes with current resources. We estimate that over 95% of all coding exons were identified in this study. Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence.

Published
2004
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21. The DNA sequence and analysis of human chromosome 13.

Author

Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, and Ross MT

Subjects
Chromosome Mapping, Genetics, Medical, Humans, Pseudogenes genetics, RNA, Untranslated genetics, Sequence Analysis, DNA, Chromosomes, Human, Pair 13 genetics, Genes genetics, Physical Chromosome Mapping
Abstract

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.

Published
2004
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22. A one-hit model of cell death in inherited neuronal degenerations.

Author

Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR, Lumsden CJ, and McInnes RR

Subjects
Animals, Cells, Cultured, Disease Models, Animal, Hippocampus pathology, Humans, Huntington Disease genetics, Kinetics, Mice, Models, Neurological, Parkinson Disease genetics, Photoreceptor Cells, Vertebrate pathology, Retina pathology, Cell Death genetics, Huntington Disease pathology, Nerve Degeneration genetics, Neurons pathology, Parkinson Disease pathology
Abstract

In genetic disorders associated with premature neuronal death, symptoms may not appear for years or decades. This delay in clinical onset is often assumed to reflect the occurrence of age-dependent cumulative damage. For example, it has been suggested that oxidative stress disrupts metabolism in neurological degenerative disorders by the cumulative damage of essential macromolecules. A prediction of the cumulative damage hypothesis is that the probability of cell death will increase over time. Here we show in contrast that the kinetics of neuronal death in 12 models of photoreceptor degeneration, hippocampal neurons undergoing excitotoxic cell death, a mouse model of cerebellar degeneration and Parkinson's and Huntington's diseases are all exponential and better explained by mathematical models in which the risk of cell death remains constant or decreases exponentially with age. These kinetics argue against the cumulative damage hypothesis; instead, the time of death of any neuron is random. Our findings are most simply accommodated by a 'one-hit' biochemical model in which mutation imposes a mutant steady state on the neuron and a single event randomly initiates cell death. This model appears to be common to many forms of neurodegeneration and has implications for therapeutic strategies.

Published
2000
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24. Opiate inhibition of peptide release from the neurohumoral terminals of hypothalamic neurones.

Author

Clarke G, Wood P, Merrick L, and Lincoln DW

Subjects
Animals, Carbachol pharmacology, Electric Stimulation, Endorphins physiology, Female, Hydrostatic Pressure, Nerve Endings drug effects, Nerve Endings metabolism, Neurosecretory Systems drug effects, Pregnancy, Rats, Supraoptic Nucleus metabolism, Hypothalamus drug effects, Lactation drug effects, Morphine pharmacology, Naloxone pharmacology, Oxytocin metabolism, Supraoptic Nucleus drug effects
Published
1979
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