1. Sequencing the mouse y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  2. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  3. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  4. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  5. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  6. Sequencing the mouse Y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  7. Sequencing the mouse y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes.

    Cell 159(4):800 (2014) PMID 25417157 PMCID PMC4260969

    We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2% of th...
  8. Exploiting Oxytricha trifallax nanochromosomes to screen for non-coding RNA genes.

    Nucleic Acids Research 39(17):7529 (2011) PMID 21715380 PMCID PMC3177221

    We took advantage of the unusual genomic organization of the ciliate Oxytricha trifallax to screen for eukaryotic non-coding RNA (ncRNA) genes. Ciliates have two types of nuclei: a germ line micronucleus that is usually transcriptionally inactive, and a somatic macronucleus that contains a reduc...
  9. Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee.

    Nature 437(7055):100 (2005) PMID 16136134

    The human Y chromosome, transmitted clonally through males, contains far fewer genes than the sexually recombining autosome from which it evolved. The enormity of this evolutionary decline has led to predictions that the Y chromosome will be completely bereft of functional genes within ten milli...
  10. Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee.

    Nature 437(7055):100 (2005) PMID 16136134

    The human Y chromosome, transmitted clonally through males, contains far fewer genes than the sexually recombining autosome from which it evolved. The enormity of this evolutionary decline has led to predictions that the Y chromosome will be completely bereft of functional genes within ten milli...
  11. The DNA sequence of the human X chromosome.
    Mark T Ross, Darren V Grafham, Alison J Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R Howell, Christine Burrows, Christine P Bird, Adam Frankish, Frances Lovell, Kevin L Howe, Jennifer L Ashurst, Robert S Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C Jones, Matthew E Hurles, T Daniel Andrews, Carol E Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P Carter, Sarah E Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A Wheeler, Kim C Worley, Rachael Ainscough, Kerrie D Ambrose, M Ali Ansari-Lari, Swaroop Aradhya, Robert I S Ashwell, Anne K Babbage, Claire L Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E Barker, Karen F Barlow, Ian P Barrett, Karen N Bates, David M Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M Bridgeman, Andrew J Brown, Mary J Brown, David Bonnin, Elspeth A Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y Clark, Graham Clarke, Chris M Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G Cole, Jen S Conquer, Nicole Corby, Richard E Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise Deshazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A Hart, Alicia Hawes, Paul D Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J Howden, Elizabeth J Huckle, Jennifer Hume, Paul J Hunt, Adrienne R Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter de Jong, Shirin Joseph, Stephen Keenan, Susan Kelly, Joanne Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M Lloyd, Hermela Loulseged, Jane E Loveland, Jamieson D Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H Matthews, Jennifer McDowall, Stuart McLaren, Amanda, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N O'Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V Pearce, Danita M Pearson, Sarah E Pelan, Lesette Perez, Keith M Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A Ridler, David Schlessinger, Mary G Schueler, Harminder K Sehra, Charles, Hua Shen, Elizabeth M Sheridan, Ratna Shownkeen, Carl D Skuce, Michelle L Smith, Elizabeth C Sotheran, Helen E Steingruber, Charles A Steward, Roy Storey, R Mark Swann, David Swarbreck, Paul E Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C Tromans, Michele d'Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L Warry, Xuehong Wei, Anthony West, Siobhan L Whitehead, Mathew N Whiteley, Jane E Wilkinson, David L Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L Woodmansey, Paul Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J Minx, Ladeana W Hillier, Huntington F Willard, Richard K Wilson, Robert H Waterston, Catherine M Rice, Mark Vaudin, Alan Coulson, David L Nelson, George Weinstock, John E Sulston, Richard Durbin, Tim Hubbard, Richard A Gibbs, Stephan Beck, Jane Rogers, and David R Bentley

    Nature 434(7031):325 (2005) PMID 15772651 PMCID PMC2665286

    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 p...
  12. The DNA sequence of the human X chromosome.
    Mark T Ross, Darren V Grafham, Alison J Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R Howell, Christine Burrows, Christine P Bird, Adam Frankish, Frances Lovell, Kevin L Howe, Jennifer L Ashurst, Robert S Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C Jones, Matthew E Hurles, T Daniel Andrews, Carol E Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P Carter, Sarah E Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A Wheeler, Kim C Worley, Rachael Ainscough, Kerrie D Ambrose, M Ali Ansari-Lari, Swaroop Aradhya, Robert I S Ashwell, Anne K Babbage, Claire L Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E Barker, Karen F Barlow, Ian P Barrett, Karen N Bates, David M Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M Bridgeman, Andrew J Brown, Mary J Brown, David Bonnin, Elspeth A Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y Clark, Graham Clarke, Chris M Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G Cole, Jen S Conquer, Nicole Corby, Richard E Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise Deshazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A Hart, Alicia Hawes, Paul D Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J Howden, Elizabeth J Huckle, Jennifer Hume, Paul J Hunt, Adrienne R Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter de Jong, Shirin Joseph, Stephen Keenan, Susan Kelly, Joanne Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M Lloyd, Hermela Loulseged, Jane E Loveland, Jamieson D Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H Matthews, Jennifer McDowall, Stuart McLaren, Amanda, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N O'Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V Pearce, Danita M Pearson, Sarah E Pelan, Lesette Perez, Keith M Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A Ridler, David Schlessinger, Mary G Schueler, Harminder K Sehra, Charles, Hua Shen, Elizabeth M Sheridan, Ratna Shownkeen, Carl D Skuce, Michelle L Smith, Elizabeth C Sotheran, Helen E Steingruber, Charles A Steward, Roy Storey, R Mark Swann, David Swarbreck, Paul E Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C Tromans, Michele d'Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L Warry, Xuehong Wei, Anthony West, Siobhan L Whitehead, Mathew N Whiteley, Jane E Wilkinson, David L Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L Woodmansey, Paul Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J Minx, Ladeana W Hillier, Huntington F Willard, Richard K Wilson, Robert H Waterston, Catherine M Rice, Mark Vaudin, Alan Coulson, David L Nelson, George Weinstock, John E Sulston, Richard Durbin, Tim Hubbard, Richard A Gibbs, Stephan Beck, Jane Rogers, and David R Bentley

    Nature 434(7031):325 (2005) PMID 15772651 PMCID PMC2665286

    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 p...
  13. The DNA sequence of the human X chromosome.
    Mark T Ross, Darren V Grafham, Alison J Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R Howell, Christine Burrows, Christine P Bird, Adam Frankish, Frances Lovell, Kevin L Howe, Jennifer L Ashurst, Robert S Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C Jones, Matthew E Hurles, T Daniel Andrews, Carol E Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P Carter, Sarah E Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A Wheeler, Kim C Worley, Rachael Ainscough, Kerrie D Ambrose, M Ali Ansari-Lari, Swaroop Aradhya, Robert I S Ashwell, Anne K Babbage, Claire L Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E Barker, Karen F Barlow, Ian P Barrett, Karen N Bates, David M Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M Bridgeman, Andrew J Brown, Mary J Brown, David Bonnin, Elspeth A Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y Clark, Graham Clarke, Chris M Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G Cole, Jen S Conquer, Nicole Corby, Richard E Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise Deshazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A Hart, Alicia Hawes, Paul D Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J Howden, Elizabeth J Huckle, Jennifer Hume, Paul J Hunt, Adrienne R Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter de Jong, Shirin Joseph, Stephen Keenan, Susan Kelly, Joanne Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M Lloyd, Hermela Loulseged, Jane E Loveland, Jamieson D Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H Matthews, Jennifer McDowall, Stuart McLaren, Amanda, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N O'Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V Pearce, Danita M Pearson, Sarah E Pelan, Lesette Perez, Keith M Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A Ridler, David Schlessinger, Mary G Schueler, Harminder K Sehra, Charles, Hua Shen, Elizabeth M Sheridan, Ratna Shownkeen, Carl D Skuce, Michelle L Smith, Elizabeth C Sotheran, Helen E Steingruber, Charles A Steward, Roy Storey, R Mark Swann, David Swarbreck, Paul E Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C Tromans, Michele d'Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L Warry, Xuehong Wei, Anthony West, Siobhan L Whitehead, Mathew N Whiteley, Jane E Wilkinson, David L Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L Woodmansey, Paul Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J Minx, Ladeana W Hillier, Huntington F Willard, Richard K Wilson, Robert H Waterston, Catherine M Rice, Mark Vaudin, Alan Coulson, David L Nelson, George Weinstock, John E Sulston, Richard Durbin, Tim Hubbard, Richard A Gibbs, Stephan Beck, Jane Rogers, and David R Bentley

    Nature 434(7031):325 (2005) PMID 15772651 PMCID PMC2665286

    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 p...
  14. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

    Blood 104(12):3588 (2004) PMID 15284109

    Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS....
  15. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

    Blood 104(12):3588 (2004) PMID 15284109

    Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS....
  16. A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.

    PNAS 100(24):14275 (2003) PMID 14614138 PMCID PMC283582

    In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing approximately 7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously describ...
  17. A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes.

    PNAS 100(24):14275 (2003) PMID 14614138 PMCID PMC283582

    In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing approximately 7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously describ...
  18. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

    Nature 423(6942):873 (2003) PMID 12815433

    Eight palindromes comprise one-quarter of the euchromatic DNA of the male-specific region of the human Y chromosome, the MSY. They contain many testis-specific genes and typically exhibit 99.97% intra-palindromic (arm-to-arm) sequence identity. This high degree of identity could be interpreted a...
  19. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.

    Nature 423(6942):825 (2003) PMID 12815422

    The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes...
  20. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

    Nature 423(6942):873 (2003) PMID 12815433

    Eight palindromes comprise one-quarter of the euchromatic DNA of the male-specific region of the human Y chromosome, the MSY. They contain many testis-specific genes and typically exhibit 99.97% intra-palindromic (arm-to-arm) sequence identity. This high degree of identity could be interpreted a...