HUM-MOLGEN archive: LITE: Human Molecular Genetics 05:12 (december issue)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 5, No 12 December 1996 ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/ and click on "Contents and Abstracts of Current Issues" ============================================= ARTICLES Y N Li, S Gulati, P J Baker, L C Brody, R Banerjee and W D Kruger Cloning, mapping and RNA analysis of the human methionine synthase gene P. 1851 S Gulati, P Baker, Y N Li, B Fowler, W Kruger, L C Brody and R Banerjee Defects in human methionine synthase in cblG patients P. 1859 D Leclerc, E Campeau, P Goyette, C E Adjalla, B Christensen, M Ross, P Eydoux, D S Rosenblatt, R Rozen and R A Gravel Human methionine ynthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders P. 1867 J G Hodgson, D J Smith, K McCutcheon, H B Koide, K Nishiyama, M B Dinulos, M E Stevens, N Bissada, J Nasir, I Kanawawa, C M Disteche, E M Rubin and M R Hayden Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype P.1875 G Stevanin, Y Trottier, G Cancel, A Durr, G David, O Didierjean, K Burk, G Imbert, F Saudou, M Abada-Bendib, I Gourfinkel-An, A Benomar, N Abbas, T Klockgether, D Grid, Y Agid, J-L Mandel and A Brice Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias P.1887 F Dutly and A Schinzel Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome P.1893 D J Picketts, D R Higgs, S Bachoo, D J Blake, O W J Quarrell and R J Gibbons ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome P.1899 REPORTS J Oshima, C-E Yu, C Piussan, G Klein, J Jabkowski, S Balci, T Miki, J Nakura, T Ogihara, J Ells, M de A C Smith, M I Melaragno, M Fraccaro, S Scappaticci, J Matthews, S Ouais, A Jarzebowicz, G D Schellenberg and G M Martin Homozygous and compound heterozygous mutations at the Werner syndrome locus P.1909 L Ma, S Golden, L Wu, and R Maxson The molecular basis of Boston type craniosynostosis: the Pro148His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences P.1915 R J Scott, N J Froggatt, R C Trembath, D G R Evans, S V Hodgson and E R Maher Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation P.1921 Y S Hong, D S Kerr, W J Craigen, J Tan, Y Pan, M Lusk and M S Patel Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency P.1925 L Yuan, N Qian and B Tycko An extended region of biallelic gene expression and rodent-human synteny downstream of the imprinted H19 gene on chromosone 11p15.5 P.1931 M W Kilpatrick, L A Phylactou, M Godfrey, C H Wu, G Y Wu and P Tsipouras Delivery of a hammerhead ribozyme specifically down-regulates the production of fibrillin-1 by cultured dermal fibroblasts P.1939 A Brinke, L Tagliavacca, J Naylor, P Green, P Giangrande and F Giannelli Two chimaeric trancription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia P.1945 C G Bonnemann, M R Passos-Bueno, E M McNally, M Vainzof, E de Sa Moreira, S K Marie, R C M Pavanello, S Noguchi, E Ozawa, M Zatz and L M Kunkel Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E) P.1953 M Vainzof, M R Passos-Bueno, M Canovas, E S Moreira, R C M Pavanello, S K Marie, L V B Anderson, C G Bonnemann, E M McNally, V Nigro, L M Kunkel and M Zatz The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies P.1963 C Brahe, O Clermont, S Zappata, F Tiziano, J Melki and G Neri Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I P.1971 X-Y Zhou, A van der Spoel, R Rottier, G Hale, R Willemsen, G T Berry, P Strisciuglio, G Andria and A d'Azzo Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis P.1977 L W J Klomp and J D Gitlin Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia P.1989 J C T van Deutekom, E Bakker, R J L F Lemmers, M J R van der Wielen, E Bik, M H Hofker, G W Padberg and R R Frants Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1 P.1997 Z Shan, P Hirschmann, T Seebacher, A Edelmann, A Jauch, J Morell, P Urbitsch and P H Vogt A SPGY copy homologous to the mouse gene Dazla and the Drosophila gene boule is autosomal and expressed only in the human male gonad P.2005 P H Yen, N N Chai and E C Salido The human autosomal gene DAZLA: testis specificity and a candidate for male infertility P.2013 F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain, L Merlini, L Jarre, C Navarro, R Krishnamoorthy, F M S Tome, J A Urtizberea, J S Beckmann, K P Campbell and J-C Kaplan A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India P.2019 S M Ivanchuk, S M Myers, C Eng and L M Mulligan De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease P.2023 K W Brown, A J Villar, W Bickmore, J Clayton-Smith, D Catchpoole, E R Maher and W Reik Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway P.2027 S Gilad, A Bar-Shira, R Harnik, D Shkedy, Y Ziv, R Khosravi, K Brown, L Vanagaite, G Xu, M Frydman, M F Lavin, D Hill, D A Tagle and Y Shiloh Ataxia telangiectasia: founder effect among North African Jews P.2033 D J Day, P W Speiser, E Schulze, M Bettendorf, J Fitness, F Barany and P C White Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees P.2039 LINKAGE REPORTS M Maw, B Kar, J Biswas, P Biswas, D Nancarrow, R Bridges, G Kumaramanickavel, M Denton and S S Badrinath Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p P.2049 J Tyson, S Bellman, V Newton, P Simpson, S Malcolm, M E Pembrey and M Bitner-Glindzicz Mapping of DFN2 to Xq22 P.2055 A Weber, T F Wienker, M Jung, D Easton, H J Dean, C Heinrichs, A Reis and A J L Clark Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster P.2061 =========================================== Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press. In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year. The papers listed above will appear in the December 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 November 1996. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Richard Gedye Oxford University Press Walton Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267785 Fax: +44 1865 267782 E-Mail: gedyer@oup.co.uk Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder. ************************************************************************ Dr. Arthur A.B. Bergen Department of Ophthalmogenetics The Netherlands Ophthalmic Research Institute (IOI) Royal Academy of Sciences of the Netherlands (KNAW) ** Snail-mail: ** ** FAX: ** ** E-mail: ** P.O.Box 12141 (+31)206916521 A.Bergen@IOI.KNAW.NL 1100 AC Amsterdam The Netherlands ************************************************************************