Human Variome Microattribution Reviews - p1

doi:10.1038/ng0108-1

Full Text - Human Variome Microattribution Reviews | PDF (119 KB) - Human Variome Microattribution Reviews

Trial and error - p3

Alan Packer reviews Genetic Witness: Science, Law, and Controversy in the Making of DNA Profiling by Jay D. Aronson

doi:10.1038/ng0108-3

Full Text - Trial and error | PDF (109 KB) - Trial and error

Copy-number analysis goes more than skin deep - pp5 - 6

Steven A McCarroll

doi:10.1038/ng0108-5

Full Text - Copy-number analysis goes more than skin deep | PDF (187 KB) - Copy-number analysis goes more than skin deep

See also: Brief Communication by Hollox et al.

Genomic rearrangements in the spotlight - pp6 - 7

Lucy R Osborne

doi:10.1038/ng0108-6

Full Text - Genomic rearrangements in the spotlight | PDF (215 KB) - Genomic rearrangements in the spotlight

See also: Letter by Turner et al.

BRCA1—sowing the seeds crooked in the furrow - pp8 - 9

William D Foulkes

doi:10.1038/ng0108-8

Full Text - BRCA1—sowing the seeds crooked in the furrow | PDF (247 KB) - BRCA1—sowing the seeds crooked in the furrow

See also: Letter by Saal et al.

Basal bodies, kinocilia and planar cell polarity - pp10 - 11

Jeffrey D Axelrod

doi:10.1038/ng0108-10

Full Text - Basal bodies, kinocilia and planar cell polarity | PDF (232 KB) - Basal bodies, kinocilia and planar cell polarity

See also: Article by Jones et al.

Touching base - p13

doi:10.1038/ng0108-13

Full Text - Touching base | PDF (119 KB) - Touching base

Research highlights - p15

doi:10.1038/ng0108-15

Full Text - Research highlights | PDF (91 KB) - Research highlights

The emerging landscape of breast cancer susceptibility - pp17 - 22

Michael R Stratton & Nazneen Rahman

doi:10.1038/ng.2007.53

Abstract - The emerging landscape of breast cancer susceptibility | Full Text - The emerging landscape of breast cancer susceptibility | PDF (298 KB) - The emerging landscape of breast cancer susceptibility

Psoriasis is associated with increased -defensin genomic copy number - pp23 - 25

Edward J Hollox, Ulrike Huffmeier, Patrick L J M Zeeuwen, Raquel Palla, Jesús Lascorz, Diana Rodijk-Olthuis, Peter C M van de Kerkhof, Heiko Traupe, Gys de Jongh, Martin den Heijer, André Reis, John A L Armour & Joost Schalkwijk

doi:10.1038/ng.2007.48

Abstract - Psoriasis is associated with increased [beta]-defensin genomic copy number | Full Text - Psoriasis is associated with increased -defensin genomic copy number | PDF (173 KB) - Psoriasis is associated with increased -defensin genomic copy number | Supplementary information

See also: News and Views by McCarroll

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk - pp26 - 28

Emma Jaeger, Emily Webb, Kimberley Howarth, Luis Carvajal-Carmona, Andrew Rowan, Peter Broderick, Axel Walther, Sarah Spain, Alan Pittman, Zoe Kemp, Kate Sullivan, Karl Heinimann, Steven Lubbe, Enric Domingo, Ella Barclay, Lynn Martin, Maggie Gorman, Ian Chandler, Jayaram Vijayakrishnan, Wendy Wood, Elli Papaemmanuil, Steven Penegar, Mobshra Qureshi, members of the CORGI Consortium, Susan Farrington, Albert Tenesa, Jean-Baptiste Cazier, David Kerr, Richard Gray, Julian Peto, Malcolm Dunlop, Harry Campbell, Huw Thomas, Richard Houlston & Ian Tomlinson

doi:10.1038/ng.2007.41

Abstract - Common genetic variants at the : CRAC1: (: HMPS: ) locus on chromosome 15q13.3 influence colorectal cancer risk | Full Text - Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk | PDF (204 KB) - Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk | Supplementary information

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis - pp29 - 31

Michael A van Es, Paul WJ van Vught, Hylke M Blauw, Lude Franke, Christiaan GJ Saris, Ludo Van Den Bosch, Sonja W de Jong, Vianney de Jong, Frank Baas, Ruben van't Slot, Robin Lemmens, Helenius J Schelhaas, Anna Birve, Kristel Sleegers, Christine Van Broeckhoven, Jennifer C Schymick, Bryan J Traynor, John HJ Wokke, Cisca Wijmenga, Wim Robberecht, Peter M Andersen, Jan H Veldink, Roel A Ophoff & Leonard H van den Berg

doi:10.1038/ng.2007.52

Abstract - Genetic variation in : DPP6: is associated with susceptibility to amyotrophic lateral sclerosis | Full Text - Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis | PDF (222 KB) - Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis | Supplementary information

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2 - pp32 - 34

Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, Jeroen van Reeuwijk, Bjoern Fischer, Anna Rajab, Birgit Budde, Peter Nürnberg, Francois Foulquier, the ARCL Debré-type Study Group, Dirk Lefeber, Zsolt Urban, Stephanie Gruenewald, Wim Annaert, Han G Brunner, Hans van Bokhoven, Ron Wevers, Eva Morava, Gert Matthijs, Lionel Van Maldergem & Stefan Mundlos

doi:10.1038/ng.2007.45

Abstract - Impaired glycosylation and cutis laxa caused by mutations in the vesicular H: +: -ATPase subunit ATP6V0A2 | Full Text - Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 | PDF (275 KB) - Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 | Supplementary information

ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms - pp35 - 42

Yoshihiro Onouchi, Tomohiko Gunji, Jane C Burns, Chisato Shimizu, Jane W Newburger, Mayumi Yashiro, Yoshikazu Nakamura, Hiroshi Yanagawa, Keiko Wakui, Yoshimitsu Fukushima, Fumio Kishi, Kunihiro Hamamoto, Masaru Terai, Yoshitake Sato, Kazunobu Ouchi, Tsutomu Saji, Akiyoshi Nariai, Yoichi Kaburagi, Tetsushi Yoshikawa, Kyoko Suzuki, Takeo Tanaka, Toshiro Nagai, Hideo Cho, Akihiro Fujino, Akihiro Sekine, Reiichiro Nakamichi, Tatsuhiko Tsunoda, Tomisaku Kawasaki, Yusuke Nakamura & Akira Hata

doi:10.1038/ng.2007.59

Abstract - ITPKC: functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms | Full Text - ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms | PDF (797 KB) - ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms | Supplementary information

Widespread microRNA repression by Myc contributes to tumorigenesis - pp43 - 50

Tsung-Cheng Chang, Duonan Yu, Yun-Sil Lee, Erik A Wentzel, Dan E Arking, Kristin M West, Chi V Dang, Andrei Thomas-Tikhonenko & Joshua T Mendell

doi:10.1038/ng.2007.30

Abstract - Widespread microRNA repression by Myc contributes to tumorigenesis | Full Text - Widespread microRNA repression by Myc contributes to tumorigenesis | PDF (693 KB) - Widespread microRNA repression by Myc contributes to tumorigenesis | Supplementary information

PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis - pp51 - 60

Gang Huang, Pu Zhang, Hideyo Hirai, Shannon Elf, Xiaomei Yan, Zhao Chen, Steffen Koschmieder, Yutaka Okuno, Tajhal Dayaram, Joseph D Growney, Ramesh A Shivdasani, D Gary Gilliland, Nancy A Speck, Stephen D Nimer & Daniel G Tenen

doi:10.1038/ng.2007.7

Abstract - PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis | Full Text - PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis | PDF (1,047 KB) - PU.1 is a major downstream target of AML1 (RUNX1) in adult mouse hematopoiesis | Supplementary information

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression - pp61 - 68

Ramesh S Yadava, Carla D Frenzel-McCardell, Qing Yu, Varadamurthy Srinivasan, Amy L Tucker, Jack Puymirat, Charles A Thornton, Owen W Prall, Richard P Harvey & Mani S Mahadevan

doi:10.1038/ng.2007.28

Abstract - RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression | Full Text - RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression | PDF (655 KB) - RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression | Supplementary information

Ciliary proteins link basal body polarization to planar cell polarity regulation - pp69 - 77

Chonnettia Jones, Venus C Roper, Isabelle Foucher, Dong Qian, Boglarka Banizs, Christine Petit, Bradley K Yoder & Ping Chen

doi:10.1038/ng.2007.54

Abstract - Ciliary proteins link basal body polarization to planar cell polarity regulation | Full Text - Ciliary proteins link basal body polarization to planar cell polarity regulation | PDF (1,517 KB) - Ciliary proteins link basal body polarization to planar cell polarity regulation | Supplementary information

See also: News and Views by Axelrod

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis - pp78 - 82

Jonas Rosendahl, Heiko Witt, Richárd Szmola, Eesh Bhatia, Béla Ózsvári, Olfert Landt, Hans-Ulrich Schulz, Thomas M Gress, Roland Pfützer, Matthias Löhr, Peter Kovacs, Matthias Blüher, Michael Stumvoll, Gourdas Choudhuri, Péter Hegyi, René HM te Morsche, Joost PH Drenth, Kaspar Truninger, Milan Macek, Jr, Gero Puhl, Ulrike Witt, Hartmut Schmidt, Carsten Büning, Johann Ockenga, Andreas Kage, David Alexander Groneberg, Renate Nickel, Thomas Berg, Bertram Wiedenmann, Hans Bödeker, Volker Keim, Joachim Mössner, Niels Teich & Miklós Sahin-Tóth

doi:10.1038/ng.2007.44

First paragraph - Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | Full Text - Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | PDF (288 KB) - Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | Supplementary information

Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus - pp83 - 89

Deborah S Cunninghame Graham, Robert R Graham, Harinder Manku, Andrew K Wong, John C Whittaker, Patrick M Gaffney, Kathy L Moser, John D Rioux, David Altshuler, Timothy W Behrens & Timothy J Vyse

doi:10.1038/ng.2007.47

First paragraph - Polymorphism at the TNF superfamily gene : TNFSF4: confers susceptibility to systemic lupus erythematosus | Full Text - Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus | PDF (531 KB) - Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus | Supplementary information

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders - pp90 - 95

Daniel J Turner, Marcos Miretti, Diana Rajan, Heike Fiegler, Nigel P Carter, Martyn L Blayney, Stephan Beck & Matthew E Hurles

doi:10.1038/ng.2007.40

First paragraph - Germline rates of : de novo: meiotic deletions and duplications causing several genomic disorders | Full Text - Germline rates of de novo meiotic deletions and duplications causing several genomic disorders | PDF (538 KB) - Germline rates of de novo meiotic deletions and duplications causing several genomic disorders | Supplementary information

See also: News and Views by Osborne

Closing gaps in the human genome with fosmid resources generated from multiple individuals - pp96 - 101

Donald Bovee, Yang Zhou, Eric Haugen, Zaining Wu, Hillary S Hayden, Will Gillett, Eray Tuzun, Gregory M Cooper, Nick Sampas, Karen Phelps, Ruth Levy, V Anne Morrison, James Sprague, Donald Jewett, Danielle Buckley, Sandhya Subramaniam, Jean Chang, Douglas R Smith, Maynard V Olson, Evan E Eichler & Rajinder Kaul

doi:10.1038/ng.2007.34

First paragraph - Closing gaps in the human genome with fosmid resources generated from multiple individuals | Full Text - Closing gaps in the human genome with fosmid resources generated from multiple individuals | PDF (351 KB) - Closing gaps in the human genome with fosmid resources generated from multiple individuals | Supplementary information

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair - pp102 - 107

Lao H Saal, Sofia K Gruvberger-Saal, Camilla Persson, Kristina Lövgren, Mervi Jumppanen, Johan Staaf, Göran Jönsson, Maira M Pires, Matthew Maurer, Karolina Holm, Susan Koujak, Shivakumar Subramaniyam, Johan Vallon-Christersson, Håkan Olsson, Tao Su, Lorenzo Memeo, Thomas Ludwig, Stephen P Ethier, Morten Krogh, Matthias Szabolcs, Vundavalli VVS Murty, Jorma Isola, Hanina Hibshoosh, Ramon Parsons & Åke Borg

doi:10.1038/ng.2007.39

First paragraph - Recurrent gross mutations of the : PTEN: tumor suppressor gene in breast cancers with deficient DSB repair | Full Text - Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair | PDF (711 KB) - Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair | Supplementary information

See also: News and Views by Foulkes

AID is required for germinal center–derived lymphomagenesis - pp108 - 112

Laura Pasqualucci, Govind Bhagat, Mila Jankovic, Mara Compagno, Paula Smith, Masamichi Muramatsu, Tasuku Honjo, Herbert C Morse, III, Michel C Nussenzweig & Riccardo Dalla-Favera

doi:10.1038/ng.2007.35

First paragraph - AID is required for germinal center-derived lymphomagenesis | Full Text - AID is required for germinal center–derived lymphomagenesis | PDF (646 KB) - AID is required for germinal center–derived lymphomagenesis | Supplementary information

Identification and characterization of high-flux-control genes of yeast through competition analyses in continuous cultures - pp113 - 117

Daniela Delneri, David C Hoyle, Konstantinos Gkargkas, Emma J M Cross, Bharat Rash, Leo Zeef, Hui-Sun Leong, Hazel M Davey, Andrew Hayes, Douglas B Kell, Gareth W Griffith & Stephen G Oliver

doi:10.1038/ng.2007.49

First paragraph - Identification and characterization of high-flux-control genes of yeast through competition analyses in continuous cultures | Full Text - Identification and characterization of high-flux-control genes of yeast through competition analyses in continuous cultures | PDF (380 KB) - Identification and characterization of high-flux-control genes of yeast through competition analyses in continuous cultures | Supplementary information