HUM-MOLGEN archive: LITE: Human Molecular Genetics 07:02

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 7 No 2 February 1998 ============================================ Executive Editors:- K E Davies, Oxford, UK Huntingdon 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" ============================================ Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene pp.157-164. E. Schollen, E. Pardon, L. Heykants, J. Renard, N.A. Doggett, D.F. Callen, J.-J. Cassiman and G. Matthijs Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) pp. 165-170. G. David, A. Durr, G. Stevanin, G. Cancel, N. Abbas, A. Benomar, S. Belal, A.-S. Lebre, M. Abada-Bendib, D. Grid, M. Holmberg, M. Yahyaoui, F. Hentati, T. Chkili, Y. Agid and A. Brice. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation pp. 171-176. J. Johansson, L. Forsgren, O. Sandgren, A. Brice, G. Holmgren and M. Holmberg. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion pp. 177-186. J. Del-Favero, L. Krols, A. Michalik, J. Theuns, A. Lofgren, D. Goossens, A. Wehnert, D. Van den Bossche, K. Van Zand, H. Backhovens, N. van Regenmorter, J.-J. Martin and C. Van Broeckhoven. HLA-DR alleles display sex-dependent effects on survival and discriminate between individual and familial longevity pp. 187-194. R. Ivanova, N. Henon, V. Lepage, D. Charron, E. Vicaut and F. Schachter. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers pp. 195-202. T.H. Thai, F. Du, J. Tsou Tsan, Y. Jin, A. Phung, M.A. Spillman, H.F. Massa, C.Y. Muller, R. Ashfaq, J.M. Mathis, D.S. Miller, B.J. Trask, R. Baer and A.M. Bowcock. Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome pp. 203-207 M. Wada, S. Toh, K. Taniguchi, T. Nakamura, T. Uchiumi, K. Kohno, I. Yoshida, A. Kimura, S. Sakisaka, Y. Adachi and M. Kuwano. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France pp. 209-216. N. Soufir, M.-F. Avril, A. Chompret, F. Demenais, J. Bombled, A. Spatz, D. Stoppa-Lyonnet, The French Familial Melanoma Study Group, J. Benard and B. Bressac-de Paillerets. Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane pp. 217-226. B. Deguen, P. Merel, L. Goutebroze, M. Giovannini, H. Reggio, M. Arpin and G. Thomas. DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system pp. 227-237. K. Yamakawa, Y.-K. Huo, M.A. Haendel, R. Hubert, X.-N. Chen, G.E. Lyons and J.R. Korenberg. Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins pp. 239-247. L.T. Braiterman, S. Zheng, P.A. Watkins, M.T. Geraghty, G. Johnson, M.C. McGuinness, A.B Moser and K.D. Smith. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type 1 pp. 249-255. K. Michalickova, M. Susic, M.C. Willing, R.J. Wenstrup and W.G. Cole. Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium pp. 257-264. H.-G. Kraft, M. Windegger, H.J. Menzel and G. Utermann. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients pp.265-272. A. Jalanko, K. Tenhunen, C.E. McKinney, M.E. LaMarca, J. Rapola, T. Autti, R. Joensuu, T. Manninen, I. Sipila, S. Ikonen, P. Riekkinen Jr, E.I. Ginns and L. Peltonen. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1 pp 273-277. A.M. Payne, S.M. Downes, D.A.R. Bessant, R. Taylor, G.E. Holder, M.J. Warren, A.C. Bird and S.S. Bhattacharya. A candidate mammalian DNA methyltransferase related to pmt1p of fission yeast pp. 279-284. J.A. Yoder and T.H. Bestor. Localization of a gene for otosclerosis to chromosome 15q25-q26 pp. 285-290. M.S. Tomek, M.R. Brown, S.R. Mani, A. Ramesh, C.R. Srikumari Srisailapathy, P. Coucke, R.I.S. Zbar, A.M. Bell, W.T. McGuirt, K. Fukushima, P.J. Willems, G. Van Camp and R.J.H. Smith. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits pp. 291-297. H.M. Mitchison, S.L. Hofmann, C.H.R. Becerra, P.B. Munroe, B.D. Lake, Y.J. Crow, J.B.P. Stephenson, R.E. Williams, I.L. Hofman, P.E.M. Taschner, J.-J. Martin, M. Philippart, E. Andermann, F. Andermann, S.E. Mole, R.M. Gardiner and A.M. O'Rawe. The human FXY gene is located within Xp22.3: implications for the evolution of the mammalian X chromosome pp. 299-305. J. Perry, S. Feather, A. Smith, S. Palmer and A. Ashworth. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients pp. 307-312. L. Martorell, D.G. Monckton, J. Gamez, K.J. Johnson, I. Gich, A. Lopez de Munain and M. Baiget. A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse pp. 313-321. R.J. Rottier, E. Bonten and A. d'Azzo. ============================================ 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 February 1998 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 1 December 1997. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Journals Subscriptions Department Oxford University Press Great Clarendon Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267907 Fax: +44 1865 267485 E-mail: jnl.orders@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 ************************************************************************ ************************************************************************ 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 ************************************************************************ ************************************************************************ 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 ************************************************************************