Table Of Content

Contents of Volume 72 January 2003 This Month in the Journal Kathryn Garber Articles Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 Gene Stephen M. Edwards, Zsofia Kote-Jarai, Julia Meitz, Rifat Hamoudi, Questa Hope, Peter Osin, Rachel Jackson, Christine Southgate, Rashmi Singh, Alison Falconer, David P. Dearnaley, Audrey Ardern-Jones, Annette Murkin, Anna Dowe, Jo Kelly, Sue Williams, Richard Oram, Margaret Stevens, Dawn M. Teare, Bruce A. J. Ponder, Simon A. Gayther, The Cancer Research UK/British Prostate Group UK Familial Prostate Cancer Study Collaborators, British Association of Urological Surgeons Section of Oncology, Doug F. Easton, and Rosalind A. Eeles Association between the Severity of Angiographic Coronary Artery Disease and Paraoxonase Gene Polymorphisms in the National Heart, Lung, and Blood Institute-Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study Qi Chen, Steven E. Reis, Candace M. Kammerer, Dennis M. McNamara, Richard Holubkov, Barry L. Sharaf, George Sopko, Daniel F. Pauly, C. Noel Bairey Merz, M. Ilyas Kamboh, and for the WISE Study Group Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human a-Galactosidase A mRNA Daniél Blom, Dave Speijer, Gabor E. Linthorst, Wilma G. Donker-Koopman, Anneke Strijland, and Johannes M. F. G. Aerts Distribution Patterns of Postmortem Dan. .se in Human Mitochondrial DNA M. Thomas P. Gilbert, Eske Willerslev, Anders J. Hansen, lan Barnes, Lars Rudbeck, Niels Lynnerup, and Alan Cooper Characterization of Genetic Miscoding Lesions Caused by Postmortem Damage M. Thomas P. Gilbert, Anders J. Hansen, Eske Willerslev, Lars Rudbeck, lan Barnes, Niels Lynnerup, and Alan Cooper A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population Zanhua Yi, Nanibaa’ Garrison, Orit Cohen-Barak, Tatiana M. Karafet, Richard A. King, Robert P. Erickson, Michael F. Hammer, and Murray H. Brilliant Identification of CRYM as a Candidate Responsible for Nonsyndromic Deafness, through cDNA Microarray Analysis of Human Cochlear and Vestibular Tissues Satoko Abe, Toyomasa Katagiri, Akihiko Saito-Hisaminato, Shin-ichi Usami, Yasuhiro Inoue, Tatsuhiko Tsunoda, and Yusuke Nakamura Association of Neuregulin 1 with Schizophrenia Confirmed in a Scottish Population Hreinn Stefansson, Jane Sarginson, Augustine Kong, Phil Yates, Valgerdur Steinthorsdottir, Einar Gudfinnsson, Steinunn Gunnarsdottir, Nicholas Walker, Hannes Petursson, Caroline Crombie, Andres Ingason, Jeffrey R. Gulcher, Kari Stefansson, and David St Clair 1605 J 1606 Contents of Volume 7 88 A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma Salud Borrego, Fred A. Wright, Raquel M. Fernandez, Nita Williams, Manuel Lopez-Alonso, Ramana Davuluti, Guillermo Antinolo, and Charis Eng Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy Hana Antonicka, Andre Mattman, Christopher G. Carlson, D. Moira Glerum, Kristen C. Hoffbuhr, Scot C. Leary, Nancy G. Kennaway, and Eric A. Shoubridge Interacting Genetic Loci on Chromosomes 20 and 10 Influence Extreme Human Obesity Chuanhui Dong, Shuang Wang, Wei-Dong Li, Ding Li, Hongyu Zhao, and R. Arlen Price A Susceptibility Gene for Psoriatic Arthritis Maps to Chromosome 16q: Evidence for Imprinting Ari Karason, Johann E. Gudjonsson, Ruchi Upmanyu, Arna A. Antonsdottir, Valdimar B. Hauksson, E. Hjaltey Runasdottir, Hjortur H. Jonsson, Daniel F. Gudbjartsson, Michael L. Frigge, Augustine Kong, Kari Stefansson, Helgi Valdimarsson, and Jeffrey R. Gulcher NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes Jenny Douglas, Sandra Hanks, |. Karen Temple, Sally Davies, Alexandra Murray, Meena Upadhyaya, Susan Tomkins, Helen E. Hughes, Trevor R. P. Cole, and Nazneen Rahman Comparison of Genome Screens for Two Independent Cohorts Provides Replication of Suggestive Linkage of Bone Mineral Density to 3p21 and 1p36 S. G. Wilson, P. W. Reed, A. Bansal, M. Chiano, M. Lindersson, M. Langdown, R. L. Prince, D. Thompson, E. Thompson, M. Bailey, P. W. Kleyn, P. Sambrook, M. M. Shi, and T. D. Spector Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19 Michael R. DeBaun, Emily L. Niemitz, and Andrew P. Feinberg Reports A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 D. Soragna, A. Vettori, G. Carraro, E. Marchioni, G. Vazza, S. Bellini, R. Tupler, F. Savoldi, and M. L. Mostacciuolo Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families Hannele Laivuori, Paivi Lahermo, Vesa Ollikainen, Elisabeth Widen, Leena Haiva-Mallinen, Helena Sundstrém, Tarja Laitinen, Risto Kaaja, Olavi Ylikorkala, and Juha Kere The Genetic Origins of the Andaman Islanders Phillip Endicott, M. Thomas P. Gilbert, Chris Stringer, Carles Lalueza-Fox, Eske Willerslev, Anders J. Hansen, and Alan Cooper Support for Association of Schizophrenia with Genetic Variation in the 6p22.3 Gene, Dysbindin, in Sib-Pair Families with Linkage and in an Additional Sample of Triad Families Sibylle G. Schwab, Michael Knapp, Stephanie Mondabon, Joachim Hallmayer, Margitta Borrmann-Hassenbach, Margot Albus, Bernard Lerer, Marcella Rietschel, Matyas Trixler, Wolfgang Maier, and Dieter B. Wildenauer A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, and Peter Heutink Contents of Volume 72 200 Significant Linkage on Chromosome 10p in Families with Bulimia Nervosa Cynthia M. Bulik, B. Devlin, Silviu-Alin Bacanu, Laura Thornton, Kelly L. Klump, Manfred M. Fichter, Katherine A. Halmi, Allan S. Kaplan, Michael Strober, D. Blake Woodside, Andrew W. Bergen, J. Kelly Ganjei, Scott Crow, James Mitchell, Alessandro Rotondo, Mauro Mauri, Giovanni Cassano, Pamela Keel Wade H. Berrettini, and Walter H. Kaye Common Sequence Variants of the Macrophage Scavenger Receptor 1 Gene Are Associated with Prostate Cancer Risk Jianfeng Xu, S. Lilly Zheng, Akira Komiya, Josyf C. Mychaleckyj, Sarah D. Isaacs, Baoli Chang, Aubrey R. Turner, Charles M. Ewing, Kathleen E. Wiley, Gregory A. Hawkins, Eugene R. Bleecker, Patrick C. Walsh, Deborah A. Meyers, and William B. Isaacs Letters to the Editor Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children Gaélle Bougeard, Francoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M. Ruchoux, Nathalie Drouot, and Thierry Frébourg Hereditary p16-Leiden Mutation in a Patient with Multiple Head and Neck Tumors Regine Schneider-Stock, Anja Giers, Christiane Motsch, Carsten Boltze, Matthias Evert, Bernd Freigang, Albert Roessner Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection K. H. Orstavik, K. Eiklid, C. B. van der Hagen, S. Spetalen, K. Kierulf, O. Skjeldal, and K. Buiting Book Reviews Pharmacogenomics Edited by Werner Kalow, Urs A. Meyer, and Rachel F. Tyndaie Reviewed by Felix Frueh The Molecule Hunt Written by Martin Jones Reviewed by Peter de Knijff Announcements Employment Opportunities; Booklet Available; Call for Patients Erratum Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an identical Disease Phenotype Paloneva et al. (September 2002 [71:656-662]) February 2003 i This Month in the Journal Kathryn Garber 227 2002 Cotterman Award Winners 1608 Contents of Volume 7 2002 ASHG Presidential Address The Complexity of Complex Diseases P. Michael Conneally 2002 William Allan Award Address Introductory Speech for Albert de la Chapelle Janet D. Rowley Inherited Human Diseases: Victories, Challenges, Disappointments Albert de la Chapelle 2002 ASHG Award for Excellence in Education Introductory Speech for Kurt Hirschhorn Barton Childs Education: A Joint Effort Kurt Hirschhorn 2002 Curt Stern Award Address Introductory Speech for James R. Lupski Robert D. Nicholls Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture James R. Lupski Articles Sensitive and Efficient Detection of RB? Gene Mutations Enhances Care for Families with Retinoblastoma Suzanne Richter, Kirk Vandezande, Ning Chen, Katherine Zhang, Joanne Sutherland, Julie Anderson, Liping Han, Rachel Panton, Patricia Branco, and Brenda Gallie Mutations in CHEK2 Associated with Prostate Cancer Risk Xiangyang Dong, Liang Wang, Ken Taniguchi, Xianshu Wang, Julie M. Cunningham, Shannon K. McDonnell, Chiping Qian, Angela F. Marks, Susan L. Slager, Brett J. Peterson, David |. Smith, John C. Cheville, Michael L. Blute, Steve J. Jacobsen, Daniel J. Schaid, Donald J. Tindall, Stephen N. Thibodeau, and Wanguo Liu Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea Manfred Kayser, Silke Brauer, Gunter Weiss, Wulf Schiefenhével, Peter Underhill, Peidong Shen, Peter Oefner, Mila Tommaseo-Ponzetta, and Mark Stoneking Identification of [xBL as the Second Major Histocompatibility Complex—Linked Susceptibility Locus for Rheumatoid Arthritis Koichi Okamoto, Satoshi Makino, Yoko Yoshikawa, Asumi Takaki, Yumie Nagatsuka, Masao Ota, Gen Tamiya, Akinori Kimura, Seiamak Bahram, and Hidetoshi Inoko Contents of Volume 72 313 The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations T. Kivisild, S. Rootsi, M. Metspalu, S. Mastana, K. Kaldma, J. Parik, E. Metspalu, M. Adojaan, H.-V. Tolk, V. Stepanov, M. Gdélge, E. Usanga, S. S. Papiha, C. Cinnioglu, R. King, L. Cavalli-Sforza, P. A. Underhill, and R. Villems The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England P. Y. W. Man, P. G. Griffiths, D. T. Brown, N. Howell, D. M. Turnbull, and P. F. Chinnery A Whole-Genome Scan for Obstructive Sleep Apnea and Obesity Lyle J. Palmer, Sarah G. Buxbaum, Emma Larkin, Sanjay R. Patel, Robert C. Elston, Peter V. Tishler, and Susan Redline Hierarchical Modeling of Linkage Disequilibrum: Genetic Structure and Spatial Relations David V. Conti and John S. Witte CD36 Polymorphism Is Associated with Protection from Cerebral Malaria Kazuya Omi, Jun Ohashi, Jintana Patarapotikul, Hathairad Hananantachai, Izumi Naka, Sornchai Looareesuwan, and Katsushi Tokunaga Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jirg Ott, and Helge Boman Estimation of Haplotype Frequencies, Linkage-Disequilibrium Measures, and Combination of Haplotype Copies in Each Pool by Use of Pooled DNA Data Toshikazu Ito, Suenori Chiku, Eisuke Inoue, Makoto Tomita, Takayuki Morisaki, Hiroko Morisaki, and Naoyuki Kamatani Skewed X-Chromosome Inactivation Is Associated with Trisomy in Women Ascertained on the Basis of Recurrent Spontaneous Abortion or Chromosomally Abnormal Pregnancies C. L. Beever, M. D. Stephenson, M. S. Penaherrera, R. H. Jiang, D. K. Kalousek, M. Hayden, L. Field, C. J. Brown, and W. P. Robinson Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, and Ethylin Wang Jabs Mental Retardation and Abnormal Skeietal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel H. Cohn, Nadia Ehtesham, Deborah Krakow, Sheila Unger, Alan Shanske, Kent Reinker, Berkley R. Powell, and David L. Rimoin Evaluation of Complex Inheritance Involving the Most Common Bardet-Bied| Syndrome Locus (BBS1) Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro lannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, Raoul C. M. Hennekam, Giiven Lileci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, and Val C. Sheffield Studying Parents and Grandparents to Assess Genetic Contributions to Early-Onset Disease Clarice R. Weinberg Genomewide Linkage Analysis Identifies Polymorphism in the Human Interferon-y Receptor Affecting Helicobacter pylori Infection Thorsten Thye, Gerd D. Burchard, Manfred Nilius, Bertram Miuller-Myhsok, and Rolf D. Horstmann 1610 Contents of Volume 72 454 Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck, Jr., Alice D. Gargano, Amy Sullivan, Valérie Biancalana, Karen Bréndum-Nielsen, Helle Hjalgrim, Elke Holinski-Feder, Frank Kooy, John Longshore, James Macpherson, Jean-Louis Mandel, Gert Matthijs, Francois Rousseau, Peter Steinbach, Marja-Leena Vdisdanen, Harriet von Koskull, and Stephanie L. Sherman Reports Mice Lacking Zfhx1b, the Gene That Codes for Smad-Interacting Protein-1, Reveal a Role for Multiple Neural Crest Cell Defects in the Etiology of Hirschsprung Disease—-Mental Retardation Syndrome Tom Van de Putte, Mitsuji Maruhashi, Annick Francis, Luc Nelles, Hisato Kondoh, Danny Huylebroeck, and Yujiro Higashi identification of PEX7 as the Second Gene Involved in Refsum Disease Daan M. van den Brink, Pedro Brites, Janet Haasjes, Anthony S. Wierzbicki, John Mitchell, Michelle Lambert- Hamill, Jacqueline de Belleroche, Gerbert A. Jansen, Hans R. Waterham, and Ronald J. A. Wanders FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A. Koivisto, Amanda Krause, Bart P. Leroy, Francoise Meire, Astrid Plomp, Lionel Van Maldergem, Anne De Paepe, Reiner Veitia, and Ludwine Messiaen Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of Crossovers in Chromosome 21 Nondisjunction Sue Ann Berend, Scott L. Page, William Atkinson, Christopher McCaskill, Neil E. Lamb, Stephanie L. Sherman, and Lisa G. Shaffer Letters to the Editor Simulation-Based P Values: Response to North et al. Karl W. Broman and Brian S. Caffo On Estimating P Values by Monte Carlo Methods Warren J. Ewens A Note on the Calculation of Empirical P Values from Monte Carlo Procedures B. V. North, D. Curtis, and P. C. Sham Confirmatory Evidence for Linkage of Relative Hand Skill to 2p12-q11 Clyde Francks, Lynn E. DeLisi, Simon E. Fisher, Steve H. Laval, Judith E. Rue, John F. Stein, and Anthony P. Monaco Book Reviews Cleft Lip and Palate: From Origin to Treatment Edited by Diego F. Wyszynski Reviewed by Michael Melnick Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, 2nd ed. Edited by Peter M. Royce and Beat Steinmann Reviewed by William R. Wilcox Contents of Volume 72 Announcements 505 Employment Opportunities; Conference; Call for Abstracts; Call for Patients March 2003 i This Month in the Journal Kathryn Garber Articles A Novel NOD2/CARD15 Haplotype Conferring Risk for Crohn Disease in Ashkenazi Jews Kazuhito Sugimura, Kent D. Taylor, Ying-chao Lin, Tieu Hang, Dai Wang, Yong-Ming Tang, Nathan Fischel-Ghodsian, Stephan R. Targan, Jerome |. Rotter, and Huiying Yang Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease Nahid Tayebi, Barbara K. Stubblefield, Joseph K. Park, Eduard Orvisky, Jamie M. Walker, Mary E. LaMarca, and Ellen Sidransky Failure to Find DUP25 in Patients with Anxiety Disorders, in Control Individuals, or in Previously Reported Positive Control Cell Lines Melody Tabiner, Sheila Youings, Nicholas Dennis, David Baldwin, Christel Buis, Andrew Mayers, Patricia A. Jacobs, and John A. Crolla Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes Yujun Shao, M. L. Cuccaro, E. R. Hauser, K. L. Raiford, M. M. Menold, C. M. Wolpert, S. A. Ravan, L. Elston, K. Decena, S. L. Donnelly, R. K. Abramson, H. H. Wright, G. R. DeLong, J. R. Gilbert, and M. A. Pericak-Vance Accumulation of Mitochondrial DNA Mutations in Human Immunodeficiency Virus—Infected Patients Treated with Nucleoside-Analogue Reverse-Transcriptase Inhibitors Annalise M. Martin, Emma Hammond, David Nolan, Craig Pace, Marion Den Boer, Louise Taylor, Hannah Moore, Olga Patricia Martinez, Frank T. Christiansen, and Simon Mallal Use of Multivariate Linkage Analysis for Dissection of a Complex Cognitive Trait Angela J. Marlow, Simon E. Fisher, Clyde Francks, |. Laurence MacPhie, Stacey S. Cherny, Alex J. Richardson, Joel B. Talcott, John F. Stein, Anthony P. Monaco, and Lon R. Cardon Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an imprinting Defect Karin Buiting, Stephanie Grof, Christina Lich, Gabriele Gillessen-Kaesbach, Osman El-Maarri, and Bernhard Horsthemke Human Population Genetic Structure and Inference of Group Membership Michael J. Bamshad, Stephen Wooding, W. Scott Watkins, Christopher T. Ostler, Mark A. Batzer, and Lynn B. Jorde Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Butte, Luigi Memo, Giuseppe Capovilla, and Giovanni Neri Contents of Volume 72 Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test Adele A. Mitchell, David J. Cutler, and Aravinda Chakravarti A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data Michael P. Epstein, Xihong Lin, and Michael Boehnke Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin a Cluster James P. Noonan, Jun Li, Loan Nguyen, Chenier Caoile, Mark Dickson, Jane Grimwood, Jeremy Schmutz, Marcus W. Feldman, and Richard M. Myers Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J. M. Friedman, and W. Dana Flanders Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 José L. Badano, Stephen J. Ansley, Carmen C. Leitch, Richard Alan Lewis, James R. Lupski, and Nicholas Katsanis The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates Neil Howell, Christy Bogolin Smejkal, D. A. Mackey, P. F. Chinnery, D. M. Turnbull, and Corinna Herrnstadt Informative Missingness in Genetic Association Studies: Case-Parent Designs Andrew S. Allen, Paul J. Rathouz, and Glen A. Satten Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt, Ann Rutherford, Frank G. Whitby, Patrycja A. Krakowiak, Lynn B. Jorde, John C. Carey, and Mike Bamshad Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S. Kamath, Bernard F. King, Vicente E. Torres, and Stefan Somlo Reports SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6 Yuishin Izumi, Hirofumi Maruyama, Masaya Oda, Hiroyuki Morino, Takayuki Okada, Hidefumi Ito, Iwao Sasaki, Hiroyasu Tanaka, Osamu Komure, Fukashi Udaka, Shigenobu Nakamura, and Hideshi Kawakami HLA-DR2 Dose Effect on Susceptibility to Multiple Sclerosis and Influence on Disease Course L. F. Barcellos, J. R. Oksenberg, A. B. Begovich, E. R. Martin, S. Schmidt, E. Vittinghoff, D. S. Goodin, D. Pelletier, R. R. Lincoln, P. Bucher, A. Swerdlin, M. A. Pericak-Vance, J. L. Haines, S. L. Hauser, and the Multiple Sclerosis Genetics Group The Genetic Legacy of the Mongols Tatiana Zerjal, Yali Xue, Giorgio Bertorelle, R. Spencer Wells, Weidong Bao, Suling Zhu, Raheel Qamar, Qasim Ayub, Aisha Mohyuddin, Songbin Fu, Pu Li, Nadira Yuldasheva, Ruslan Ruzibakiev, Jiujin Xu, Qunfang Shu, Ruofu Du, Huanming Yang, Matthew E. Hurles, Elizabeth Robinson, Tudevdagva Gerelsaikhan, Bumbein Dashnyam, S. Qasim Mehdi, and Chris Tyler-Smith Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy Kristien Verhoeven, Peter De Jonghe, Katrien Coen, Nathalie Verpoorten, Michaela Auer-Grumbach, Jennifer M. Kwon, David FitzPatrick, Eric Schmedding, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Klaus Wagner, Hans-Peter Hartung, and Vincent Timmerman Contents of Volume 72 1613 728 Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome Victor L. Ruiz-Perez, Stuart W. J. Tompson, Helen J. Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O. Silva, Ben Hamel, John L. Gibbs, lan D. Young, Michael J. Wright, and Judith A. Goodship The Constitutional t(17;22): Another Trazislocation Mediated by Palindromic AT-Rich Repeats Hiroki Kurahashi, Tamim Shaikh, Masayuki Takata, Tatsushi Toda, and Beverly S. Emanuel Large Differences between LINE-1 Amplification Rates in the Human and Chimpanzee Lineages Lauren M. Mathews, Susan Y. Chi, Noam Greenberg, Igor Ovchinnikov, and Gary D. Swergold Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia Math P. Cuajungco, Maire Leyne, James Mull, Sandra P. Gill, Weining Lu, David Zagzag, Felicia B. Axelrod, Channa Maayan, James F. Gusella, and Susan A. Slaugenhaupt Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q S. L. Slager, D. J. Schaid, J. M. Cunningham, S. K. McDonnell, A. F. Marks, B. J. Peterson, S. J. Hebbring, S. Anderson, A. J. French, and S. N. Thibodeau Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density Liesbeth Van Wesenbeeck, Erna Cleiren, Jeppe Gram, Rodney K. Beals, Olivier Bénichou, Domenico Scopelliti, Lyndon Key, Tara Renton, Cindy Bartels, Yaoqin Gong, Matthew L. Warman, Marie-Christine de Vernejoul, Jens Bollerslev, and Wim Van Hul Book Reviews Overgrowth Syndromes By Michael Cohen, Jr.; Giovanni Neri; and Rosanna Weksberg Reviewed by Ann Haskins Olney Genes and Mechanisms in Vertebrate Sex Determination Edited by G. Scherer and M. Schmid The Genetics and Biology of Sex Determination Novartis Foundation Symposium 244 Reviewed by John M. Opitz Announcements Awards; Employment Opportunities; Call for Patients; Fellowship Errata Splitting p63 van Bokhoven and Brunner (July 2002 [71:1-13]) Distribution Patterns of Postmortem Damage in Human Mitochondrial DNA Gilbert et al. January 2003 [72:31-47]) Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations Yoshida et al. (October 2002 [71:724-738]) Contents of Volume 72 April 2003 i This Month in the journal Kathryn Garber Obituary Lodewijk A. Sandkuijl, M.D. (July 31, 1953-December 4, 2002) Nelson B. Freimer, Peter Heutink, and Cisca Wijmenga Review Article Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease J. Jay Gargus Articles Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease Joelle M. van der Walt, Kristin K. Nicodemus, Eden R. Martin, William K. Scott, Martha A. Nance, Ray L. Watts, Jean P. Hubble, Jonathan L. Haines, William C. Koller, Kelly Lyons, Rajesh Pahwa, Matthew B. Stern, Amy Colcher, Bradley C. Hiner, Joseph Jankovic, William G. Ondo, Fred H. Allen Jr., Christopher G. Goetz, Gary W. Small, Frank Mastaglia, Jeffrey M. Stajich, Adam C. McLaurin, Lefkos T. Middleton, Burton L. Scott, Donald E. Schmechel, Margaret A. Pericak-Vance, and Jeffery M. Vance Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection Neil Risch, Hua Tang, Howard Katzenstein, and Josef Ekstein ATLAS: A System to Selectively Identify Human-Specific L1 Insertions Richard M. Badge, Reid S. Alisch, and John V. Moran Missense Mutations in the Regulatory Domain of PKCy: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia Dong-Hui Chen, Zoran Brkanac, Christophe L. M. J. Verlinde, Xiao-Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P. J. Cimino, Thomas D. Bird, and Wendy H. Raskind Genome Association Studies of Complex Diseases by Case-Control Designs Ruzong Fan and Michael Knapp Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted Brown, Stephane Schaeffer, John Kissel, Flora Tassone, and Paul J. Hagerman Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism Jan Fullerton, Matthew Cubin, Hemant Tiwari, Chenxi Wang, Amarjit Bomhra, Stuart Davidson, Sue Miller, Christopher Fairburn, Guy Goodwin, Michael C. Neale, Simon Fiddy, Richard Mott, David B. Allison, and Jonathan Flint On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit Jung-Ying Tzeng, B. Devlin, Larry Wasserman, and Kathryn Roeder