HUM-MOLGEN archive: LITE: HMG TOC JAN 98

============================================ Human Molecular Genetics - ISSN 1964-6906 Volume 7, No 1 January 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" ============================================ Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination p. 1. A. Schwartz, D.C. Chan, L.G. Brown, R. Alagappan, D. Pettay, C. Disteche, B. McGillivray, A. de la Chapelle and D.C. Page. Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes p. 13. B.J. Trask, C. Friedman, A. Martin-Gallardo, L. Rowen, C. Akinbami, J. Blankenship, C. Collins, D. Giorgi, S. Iadonato, F. Johnson, W-L. Kuo, H. Massa, T. Morrish, S. Naylor, O.T.H. Nguyen, S. Rouquier, T. Smith, D.J. Wong, J. Youngblom and G. van den Engh. A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus p. 27. S. Wiltshire, S. Bhattacharyya, J.A. Faux, N.I. Leaves, S.E. Daniels, M.F. Moffatt, A. James, A.W. Musk and W.O.C.M. Cookson. Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders p. 33. D. Sternberg, C. Danan, A. Lombes, P. Laforet, E. Girodon, M. Goossens and S. Amselem. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population- based study of presenile Alzheimer disease p. 43. M. Cruts, C.M. van Duijn, H. Backhovens, M. Van den Broeck, A. Wehnert, S. Serneels, R. Sherrington, M. Hutton, J. Hardy, P.H. St George- Hyslop, A. Hofman and C. Van Broeckhoven. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease p. 53 A.G.A. Bijvoet, E.H.M van de Kamp, M.A. Kroos, J-H. Ding, B.Z. Yang, P. Visser, C.E. Bakker, M.Ph. Verbeet, B.A. Oostra, A.J.J. Reuser and A.T. van der Ploeg. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest p. 63. E.W. Johnson, J. Dubovsky, S.S. Rich, C.A. O'Donovan, H.T. Orr, V.E. Anderson, A. Gil-Nagel, P. Ahmann, C.G. Dokken, D.T. Schneider and J.L. Weber. Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation p.69. J.K. Schweitzer and D.M. Livingston. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis p.75. A.H. Alkhayat, S.A. Kraemer, J.R. Leipprandt, M. Macek, W.J. Kleijer and K.H. Friderici. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease p.85. I. Jarvela, M. Sainio, T. Rantamaki, V.M. Olkkonen, O. Carpen, L. Peltonen and A. Jalanko. The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns p. 91. J.M. Greally, D.J. Starr, S. Hwang, L. Song, M. Jaarola and S. Zemel. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene p. 97. G.M. Brown, R.A. Furlong, C.A. Sargent, R.P. Erickson, G. Longepied, M. Mitchell, M.H. Jones, T.B. Hargreave, H.J. Cooke and N.A. Affara. In vitro reactivation of the FMR1 gene involved in fragile X syndrome p. 109. P. Chiurazzi, M.G. Pomponi, R. Willemsen, B.A. Oostra and G. Neri. Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts p.115. S.A. Igdoura, C. Gafuik, C. Mertineit, F. Saberi, A.V. Pshezhetsky, M. Potier, J.M. Trasler and R.A. Gravel. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy p. 121. R. Butler, P.N. Leigh, M.J. McPhaul and J-M. Gallo. Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation p. 129. R.A. Decker, M.L. Peacock and P. Watson. Emerin deletions occurring on both Xq28 inversion backgrounds p. 135. K. Small and S.T. Warren. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination p. 141. J. Lopes, N. Ravise, A. Vandenberghe, F. Palau, V. Ionasescu, M. Mayer, N. Levy, N. Wood, N. Tachi, P. Bouche, P. Latour, M. Ruberg, A. Brice and E. LeGuern. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis p. 149. B. Burwinkel, S. Shiomi, A.A. Zaben and M.W. Kilimann. ============================================ 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 January 1998 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 18 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 ************************************************************************