Hum. Mol. Genet. -- Table of Contents (2 [12] )

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Contents: Volume 2, Number 12   December 1993   [Index by Author]

       ORIGINAL ARTICLES

       SHORT COMMUNICATIONS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       NEW HUMAN DNA POLYMORPHISMS

       Author index

       ERRATUM

       Apology

       Annual Subject Index

       Annual Author Index

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ORIGINAL ARTICLES:

Karin Bulting, Bärbel Dlttrich, Stephanle Groß, Valerle Greger, Marc Lalande, Wendy Robinson, Apiwat Mutirangura, David Ledbetter, and Bernhard Horsthemke: Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene
Hum. Mol. Genet. 1993 2: 1991-1994; doi:10.1093/hmg/2.12.1991 [Abstract] [PDF] [Request Permissions]

Bärbel Dittrich, Karin Buiting, Stephanie Groß, and Bernhard Horsthemke: Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
Hum. Mol. Genet. 1993 2: 1995-1999; doi:10.1093/hmg/2.12.1995 [Abstract] [PDF] [Request Permissions]

Christopher C. Glenn, Kathleen A. Porter, Michelle T.C. Jong, Robert D. Nicholls, and Daniel J. Driscoll: Functional imprinting and epigenetic modification of the human SNRPN gene
Hum. Mol. Genet. 1993 2: 2001-2005; doi:10.1093/hmg/2.12.2001 [Abstract] [PDF] [Request Permissions]

Christian Clepet, Alan J. Schater, Andrew H. Sinclair, Mark S. Palmer, Robin Lovell-Badge, and Peter N. Goodfellow: The human SRY transcript
Hum. Mol. Genet. 1993 2: 2007-2012; doi:10.1093/hmg/2.12.2007 [Abstract] [PDF] [Request Permissions]

Milena Stevanovlc, Robin Lovell-Badge, Jér{ring}me Collignon, and Peter N. Goodfellow: SOX3 is an X-linked gene related to SRY
Hum. Mol. Genet. 1993 2: 2013-2018; doi:10.1093/hmg/2.12.2013 [Abstract] [PDF] [Request Permissions]

Jacques S. Beckmann, James Tomfohrde, Robert I. Barnes, Michele Williams, Odlle Broux, Isabelle Richard, Jean Welssenbach, and Anne M. Bowcock: A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites
Hum. Mol. Genet. 1993 2: 2019-2030; doi:10.1093/hmg/2.12.2019 [Abstract] [PDF] [Request Permissions]

Francisco Palau, Ann Löfgren, Peter De Jonghe, Sylvia Bort, Eva Nelis, Teresa Sevilla, Jean-Jacques Martin, Juan Vilchez, Felix Prieto, and Christine Van Broeckhoven: Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis
Hum. Mol. Genet. 1993 2: 2031-2035; doi:10.1093/hmg/2.12.2031 [Abstract] [PDF] [Request Permissions]

Judith C.T.Van Deutekom, Cisca Wljmenga, Esther A.E.Van Tlenhoven, Anne-Marie Gruter, Jane E. Hewitt, George W. Padberg, Gert-Jan. B.van Ommen, Marten H. Hofker, and Rune R. Fronts: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
Hum. Mol. Genet. 1993 2: 2037-2042; doi:10.1093/hmg/2.12.2037 [Abstract] [PDF] [Request Permissions]

Dletmar Bächner, Antonella Manca, Peter Stelnbach, Doris Wöhrle, Walter Just, Walther Vogel, Horst Hameister, and Annemarle Poustka: Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
Hum. Mol. Genet. 1993 2: 2043-2050; doi:10.1093/hmg/2.12.2043 [Abstract] [PDF] [Request Permissions]

Danielle Pham-Dinh, Yves Fourbil, Francolse Blanquet, Marie-Geneviève Mattél, Nathalie Roeckel, Philippe Latour, Guy Chazot, Antoon Vandenberghe, and André Dautigny: The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc ${gamma}$ receptor genes on human chromosome 1q21.3 – q23
Hum. Mol. Genet. 1993 2: 2051-2054; doi:10.1093/hmg/2.12.2051 [Abstract] [PDF] [Request Permissions]

Istvan Danko, Jeffery D. Fritz, Jeffrey S. Latendresse, Hans Herweijer, Edward Schultz, and Jon A. Wolff: Dystrophin expression improves myofiber survival in mdx muscle following intramuscular plasmid DNA injection
Hum. Mol. Genet. 1993 2: 2055-2061; doi:10.1093/hmg/2.12.2055 [Abstract] [PDF] [Request Permissions]

Christine Zühlke, Olaf Rless, Barbara Bockel, Herwlg Lange, and Ulrike Thies: Mitotic stability and meiotic variability of the (CAG)_n repeat in the Huntington disease gene
Hum. Mol. Genet. 1993 2: 2063-2067; doi:10.1093/hmg/2.12.2063 [Abstract] [PDF] [Request Permissions]

André T. Hoogeveen, Rob Willemsen, Nicolle Meyer, Karien E.de Roolj, Raymund A.C. Roos, Gert-Jan B.van Ommen, and Hans Galjaard: Characterization and localization of the Huntington disease gene product
Hum. Mol. Genet. 1993 2: 2069-2073; doi:10.1093/hmg/2.12.2069 [Abstract] [PDF] [Request Permissions]

Salim D. Islam, Stephen H. Pllder, Cindy L. Decker, Judith A. Cebra-Thomas, and Lee M.Silver: The human homolog of a candidate mouse t complex responder gene: conserved motifs and evolution with punctuated equilibria
Hum. Mol. Genet. 1993 2: 2075-2079; doi:10.1093/hmg/2.12.2075 [Abstract] [PDF] [Request Permissions]

K.J. Morten, J.M. Cooper, G.K. Brown, B.D. Lake, D. PIke, and J. Poulton: A new point mutation associated with mitochondrial encephalomyopathy
Hum. Mol. Genet. 1993 2: 2081-2087; doi:10.1093/hmg/2.12.2081 [Abstract] [PDF] [Request Permissions]

Tammy K. Howard, Elizabeth M. Algar, Jane A. Glatz, Anthony E. Reeve, and Peter J. Smith: The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours
Hum. Mol. Genet. 1993 2: 2089-2092; doi:10.1093/hmg/2.12.2089 [Abstract] [PDF] [Request Permissions]

Alison Davis and John K.Cowell: Mutations in the PAX6 gene in patients with hereditary aniridia
Hum. Mol. Genet. 1993 2: 2093-2097; doi:10.1093/hmg/2.12.2093 [Abstract] [PDF] [Request Permissions]

Stephanle Halford, Roy Wadey, Catherine Roberts, Sara C.M. Daw, Jennifer A. Whiting, Hllary O'Donnell, Ian Dunham, David Bentley, Elizabeth Lindsay, Antonio BaldInI, Fiona Francis, Hans Lehrach, Robert Williamson, David I. Wilson, Judith Goodship, Ian Cross, John Burn, and Peter J. Scambler: Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
Hum. Mol. Genet. 1993 2: 2099-2107; doi:10.1093/hmg/2.12.2099 [Abstract] [PDF] [Request Permissions]

Carol C. Shoulders, David J. Brett, Jayne D. Bayllss, Teresa M.E. Narcisi, Adam Jarmuz, Tamsin T. Grantham, Patricia R.D. Leoni, Shoumo Bhattacharya, Richard J. Pease, Paul M. Cullen, Sassoon Levi, Peter G.H. Byfield, Paul Purkiss, and James Scott: Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
Hum. Mol. Genet. 1993 2: 2109-2116; doi:10.1093/hmg/2.12.2109 [Abstract] [PDF] [Request Permissions]

Maria Lulza Barth, Anthony Fensom, and Ann Harris: Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients
Hum. Mol. Genet. 1993 2: 2117-2121; doi:10.1093/hmg/2.12.2117 [Abstract] [PDF] [Request Permissions]

T. Matilla, V. Volpinl, D. Genis, J. Rosell, J. Corral, A. Davalos, A. Molins, and X. Estivill: Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
Hum. Mol. Genet. 1993 2: 2123-2128; doi:10.1093/hmg/2.12.2123 [Abstract] [PDF] [Request Permissions]

Mark A. Pook, Oliver Wrong, Carol Wooding, Anthony G.W. Norden, Terry G. Feest, and Rajesh V. Thakker: Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
Hum. Mol. Genet. 1993 2: 2129-2134; doi:10.1093/hmg/2.12.2129 [Abstract] [PDF] [Request Permissions]

T. Aoyama, K. Tynan, H.C. Dietz, U. Francke, and H. Furthmayr: Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome
Hum. Mol. Genet. 1993 2: 2135-2140; doi:10.1093/hmg/2.12.2135 [Abstract] [PDF] [Request Permissions]

SHORT COMMUNICATIONS:

Nuria Fonknechten, Thierry Bienvenu, Christine Moriscot, Cherif Beldjord, Axel Kahn, Catherine Figarella, and Jean-Claude Kaplan: Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals
Hum. Mol. Genet. 1993 2: 2141-2142; doi:10.1093/hmg/2.12.2141 [PDF] [Request Permissions]

Linda J. Valentijn, Frank Baas, Ina Zorn, Gerard W. Hensels, Marianne de Visser, and Peter A. Bolhuls: Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A
Hum. Mol. Genet. 1993 2: 2143-2146; doi:10.1093/hmg/2.12.2143 [PDF] [Request Permissions]

Joseph A. Rothnagel, Monte P. Fisher, Shelli M. Axtell, Mark R. Pittelkow, Ingrun Anton-Lamprecht, Marcel Huber, Daniel Hohl, and Dennis R. Roop: A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
Hum. Mol. Genet. 1993 2: 2147-2150; doi:10.1093/hmg/2.12.2147 [Abstract] [PDF] [Request Permissions]

C. Baroncini, L. Baldazzi, P. Pirazzoll, G. Marchetti, M. Capelll, E. Cacclari, and F. Bernardl: Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster
Hum. Mol. Genet. 1993 2: 2151-2153; doi:10.1093/hmg/2.12.2151 [PDF] [Request Permissions]

Roswitha B.Scholz, Karin Mllde-Langosch, Roman Jung, Horst Schlechte, Hartmut Kabisch, Christoph Wagener, and Thomas Löning: Rapid screening for Tp53 mutations by temperature gradient gel electrophoresis: a comparison with SSCP analysis
Hum. Mol. Genet. 1993 2: 2155-2158; doi:10.1093/hmg/2.12.2155 [PDF] [Request Permissions]

Margarita Pérez-Casal, Martina Daly, and an Peake: A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene
Hum. Mol. Genet. 1993 2: 2159-2161; doi:10.1093/hmg/2.12.2159 [PDF] [Request Permissions]

Osamu Ogawa, Leslie A. McNoe, Michael R. Eccles, lan M. Morison, and Anthony E. Reeve: Human insulin-like growth factor type I and type II receptors are not imprinted
Hum. Mol. Genet. 1993 2: 2163-2165; doi:10.1093/hmg/2.12.2163 [Abstract] [PDF] [Request Permissions]

Sigrun Hofferbert, Peter Burfeind, Sigrid Hoyer-Fender, Ricarda Lange, Gerhard Haldl, and Wolfgang Engel: A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype
Hum. Mol. Genet. 1993 2: 2167-2170; doi:10.1093/hmg/2.12.2167 [PDF] [Request Permissions]

MUTATION REPORTS:

Ignaz Grell, Klaus Wagner, and Walter Rosenkranz: Identification of a new splice site mutation (3849 +1G $<-$ A) in the intron 19 of the CFTR gene
Hum. Mol. Genet. 1993 2: 2171-2172; doi:10.1093/hmg/2.12.2171 [PDF] [Request Permissions]

Thomas Meitinger, Astrid Golla, Christa Dörner, Annette Deufel, Christa Aulehla-Scholz, Ingolf Böhm, Dietrich Reinhardt, and Thomas Deufel: In frame deletion ( ${Delta}$ F311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene
Hum. Mol. Genet. 1993 2: 2173-2174; doi:10.1093/hmg/2.12.2173 [PDF] [Request Permissions]

Nicola J. Rose, Katrina Mackay, Peter H. Byers, and Raymond Daigleish: A novel glycine to glutamic acid substitution at position 343 in the ${alpha}$ 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta
Hum. Mol. Genet. 1993 2: 2175-2177; doi:10.1093/hmg/2.12.2175 [PDF] [Request Permissions]

Isabelle Djaffar and Jean-Philippe Rosa: A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIII (integrinß₃) Arg214 by Trp
Hum. Mol. Genet. 1993 2: 2179-2180; doi:10.1093/hmg/2.12.2179 [PDF] [Request Permissions]

M. Meins, G. Grüning, A. Blankenagel, H. Krastel, B. Reck, S. Fuchs, E. Schwinger, and A. Gal: Heterozygous ‘null allele’ mutation in the human peripherin/RDS gene
Hum. Mol. Genet. 1993 2: 2181-2182; doi:10.1093/hmg/2.12.2181 [PDF] [Request Permissions]

Isabelle Djaffar, Jacques P. Caen, and Jean-Philippe Rosa: A large alteration in the human platelet glycoprotein Illa (integrin ß₃) gene associated with Glanzmann's thrombasthenia
Hum. Mol. Genet. 1993 2: 2183-2185; doi:10.1093/hmg/2.12.2183 [PDF] [Request Permissions]

Kenjl Kurosawa, Akiko Iwakl, Sho-ta Miyake, Kiyoshi Imaizuml, Yoshikazu Kuroki, and Yasuyuki Fukumakl: A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus — Merzbacher disease
Hum. Mol. Genet. 1993 2: 2187-2189; doi:10.1093/hmg/2.12.2187 [Abstract] [PDF] [Request Permissions]

Sandra Strautnleks and Sue Malcolm: A G to T mutation at a splice site in a case of Pelizaeus—Merzbacher disease
Hum. Mol. Genet. 1993 2: 2191-2192; doi:10.1093/hmg/2.12.2191 [PDF] [Request Permissions]

Paul N. Baird and John.K. Cowell: A novel zinc finger mutation in a patient with Denys—Drash syndrome
Hum. Mol. Genet. 1993 2: 2193-2194; doi:10.1093/hmg/2.12.2193 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Manuel B. Graeber, Ulrich Muller, Anthony P. Monaco, and James L. Weber: Four dinucleotide repeat polymorphisms at the D7S804 locus
Hum. Mol. Genet. 1993 2: 2195; doi:10.1093/hmg/2.12.2195 [PDF] [Request Permissions]

Vassilis Orphanos, Gail McGown, John M. Boyle, and Mauro Santibanez-Koref: Thirteen dinucleotide repeat polymorphisms on chromosome 6
Hum. Mol. Genet. 1993 2: 2196; doi:10.1093/hmg/2.12.2196 [PDF] [Request Permissions]

Akira Inoue, Hiroshi Ihara, Taizaburo Kon, Michiko Nakamura, Jiro Suzuki, Tsugutoshi Aoki, Hiromichi Hemmi, and Hiroyuki Shimatake: Polymorphism in the human dopamine D4 receptor gene (DRD4) in Japanese detected by PCR
Hum. Mol. Genet. 1993 2: 2197; doi:10.1093/hmg/2.12.2197 [PDF] [Request Permissions]

D.K. Grandy, Y. Zhang, and O. Civelli: PCR detection of the TaqA RFLP at the DRD2 locus
Hum. Mol. Genet. 1993 2: 2197; doi:10.1093/hmg/2.12.2197-a [PDF] [Request Permissions]

Zhewu Wang, Raymond R. Crowe, and J.Lawrence Marsh: An SspI polymorphism for the human DOPA decarboxylase (DDC) gene on chromosome 7p
Hum. Mol. Genet. 1993 2: 2198; doi:10.1093/hmg/2.12.2198 [PDF] [Request Permissions]

Antonel Dickers, Anne E. Jedlicka, Patricia A. Powers, Kirk Hogan, Ronald G. Gregg, and Roy C. Levitt: G to A polymorphism in the CACNLG gene
Hum. Mol. Genet. 1993 2: 2198; doi:10.1093/hmg/2.12.2198-a [PDF] [Request Permissions]

Fawzy A. Saad, Céline Busque, L. Vitiello, and Gian A. Danieli: DXS997 localized to intron 48 of dystrophin
Hum. Mol. Genet. 1993 2: 2199; doi:10.1093/hmg/2.12.2199 [PDF] [Request Permissions]

Isabelle Richard, Nathalie Bourg, and Jacques S. Beckmann: Dinucleotide repeat at the D15S129 locus
Hum. Mol. Genet. 1993 2: 2199; doi:10.1093/hmg/2.12.2199-a [PDF] [Request Permissions]

Francoise Fougerousse, Patricia Pasturaud, and Jacques S. Beckmann: Dinucleotide repeat polymorphism at the locus D15S222
Hum. Mol. Genet. 1993 2: 2200; doi:10.1093/hmg/2.12.2200 [PDF] [Request Permissions]

G.A. Harrison, K.E. Humphrey, I.B. Jakobsen, and D.W. Cooper: A 14 bp deletion polymorphism in the HLA-G gene
Hum. Mol. Genet. 1993 2: 2200; doi:10.1093/hmg/2.12.2200-a [PDF] [Request Permissions]

T. Hagemann and S.P. Kwan: A BstNI polymorphism at the BTK locus in Xq21.3 – Xq22
Hum. Mol. Genet. 1993 2: 2201; doi:10.1093/hmg/2.12.2201 [PDF] [Request Permissions]

D. Larget-Piet, J.-M. Rozet, S. Gerber, H. Dollfus, A. Munnich, and J. Kaplan: Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus
Hum. Mol. Genet. 1993 2: 2201; doi:10.1093/hmg/2.12.2201-a [PDF] [Request Permissions]

G. Goulielmos, M. Manifava, and N.K. Moschonas: Dinucleotide repeat polymorphism at the GLUDP2 locus
Hum. Mol. Genet. 1993 2: 2202; doi:10.1093/hmg/2.12.2202 [PDF] [Request Permissions]

E.Van De Vosse, P.F.M. Booms, R.H.A.M. Vossen, M.C. Wapenaar, G.J.B.Van Ommen, and J.T.Den Dunnen: A CA-repeat polymorphism near DXS418 (P122)
Hum. Mol. Genet. 1993 2: 2202; doi:10.1093/hmg/2.12.2202-a [PDF] [Request Permissions]

Jesús Sainz, Alex Nechiporuk, Ung-Jin Kim, Melvin I. Simon, and Stefan M. Pulst: CA-repeat polymorphism at the D22S430 locus adjacent to NF2
Hum. Mol. Genet. 1993 2: 2203; doi:10.1093/hmg/2.12.2203 [PDF] [Request Permissions]

J. Worthington, C. Pearson, C. Julier, J. Bell, and F.B. Comelis: Dinucleotide repeat polymorphism at the PI locus
Hum. Mol. Genet. 1993 2: 2203; doi:10.1093/hmg/2.12.2203-a [PDF] [Request Permissions]

Hye-Jung Han, Tsutomu Fujiwara, Sadahito Shin, and Yusuke Nakamura: Dinucleotide repeat polymorphism in the 3' non-coding region of the FLTI gene
Hum. Mol. Genet. 1993 2: 2204; doi:10.1093/hmg/2.12.2204 [PDF] [Request Permissions]

Jutta Schönling, Nigel K. Spurr, and Brunhilde Wirth: Twenty different alleles at the locus D5S683 on 5q23–31
Hum. Mol. Genet. 1993 2: 2204; doi:10.1093/hmg/2.12.2204-a [PDF] [Request Permissions]

Keiko Tadokoro, Noriko Oki, Akira Sakai, Hanako Fujii, Akira Ohshima, Shigeo Nagafuchi, Tadashi Inoue, and Masao Yamada: PCR detection of 9 polymorphisms in the WT1 gene
Hum. Mol. Genet. 1993 2: 2205-2206; doi:10.1093/hmg/2.12.2205 [PDF] [Request Permissions]

NEW HUMAN DNA POLYMORPHISMS:

: New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1993 2: 2207-2211; doi:10.1093/hmg/2.12.2207 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 2213-2214; doi:10.1093/hmg/2.12.2213 [PDF] [Request Permissions]

ERRATUM:

A. Braun, A. Kofler, R. bichlmaier, S. Kammerer, and H. Cleve: A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene
Hum. Mol. Genet. 1993 2: 2214; doi:10.1093/hmg/2.12.2214 [Abstract] [PDF] [Request Permissions]

Apology:

N. Craddock, E. Dawson, S. Burge, L. Parfitt, R. Mant, Q. Roberts, J. Daniesl, M. Gill, P. McGuffin, J. Powell, and M. Owen: The gene for Darier's desease maps to chromosome 12q23–q24.1
Hum. Mol. Genet. 1993 2: 2214; doi:10.1093/hmg/2.12.2214-a [Abstract] [PDF] [Request Permissions]

Annual Subject Index:

: Subject Index
Hum. Mol. Genet. 1993 2: 2215-2224; doi:10.1093/hmg/2.12.2215 [PDF] [Request Permissions]

Annual Author Index:

: Author index
Hum. Mol. Genet. 1993 2: 2225-2233; doi:10.1093/hmg/2.12.2225 [PDF] [Request Permissions]

Human Molecular Genetics