FIGURE 2. Segmental duplications involving 1q21.1.
From the following article:
The DNA sequence and biological annotation of human chromosome 1
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. M oore, 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
Nature 441, 315-321(18 May 2006)
doi:10.1038/nature04727
a, Intrachromosomal segmental duplications within 1q21.1, and those between 1q21.1 and other parts of chromosome 1. The pink lines indicate duplications that incorporate members of the neuroblastoma breakpoint family (NBPF) genes. Three NBPF genes at 1p13 (ref. 9) are not detected in the segmental duplication analysis but are present in the sequence. b, Enlarged section of chromosome 1 encompassing the proximal short and long arm (1p13.3–1q23.1). The hatched box is the heterochromatic block on 1q. The positions of the NOTCH2 and NOTCH2NL genes, and the FCGR1A, B and C genes, are shown, and the arrows indicate the direction of their transcription. Eleven members of the NBPF lie in the region of the pink box. The red arrow indicates a suggested pericentric inversion that occurred in the human lineage following duplication of NOTCH2 and FCGR1.
