HUM-MOLGEN archive: LITE: Human Molecular Genetics 06:01 (Januari 1997 issue)

========================================== Human Molecular Genetics - ISSN 1964-6906 Volume 6, No 1 January 1997 ========================================== 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 J R Vermeesch, P Petit, A Kermouni, J-C Renauld, H Van Den Berghe and P Marynen The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y P. 1 V Regnier, M Meddeb, G Lecointre, F Richard, A Duverger, V C Nguyen, B Dutrillaux, A Bernheim and G Danglot Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition P. 9 International Collaborative Study Group for Bartter-like Syndromes, consisting of Group 1: L Karolyi, M Konrad, A Kockerling, A Ziegler, D K Zimmermann, B Roth, C Wieg, K-H Grzeschik, M C Koch, H W Seyberth; Group 2: R Vargas, L Forestier, G Jean, M Deschaux, G F Rizzoni, P Niaudet, C Antignac; Group 3: D Feldmann, F Lorridon, E Cougoureux, F Laroze, J-L Alessandri, L David, P Saunier, G Deschenes; Group 4: F Hildebrandt, M Vollmer, W Proesmans, M Brandis; Group 5: L P W J van den Heuvel, H H Lemmink, W Nillesen, L A H Monnens, N V A M Knoers; Group 6: L M Guay-Woodford, C J Wright, G Madrigal and S C Hebert. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity P. 17 REPORTS H Chaib, J Kaplan, S Gerber, C Vincent, H Ayadi, R Slim, A Munnich, J Weissenbach and C Petit A newly identified locus for Usher syndrome type 1, USH1E, maps to chromosome 21q21 P. 27 N Brass, D Heckel, U Sahin, M Pfreundschuh, G W Sybrecht and E Meese Translation initiation factor eIF-4gamma is encoded by an amplified gene and induces an immune response in squamous cell lung carcinoma P.33 C Lalueza, A Perez-Perez, E Prats, L Cornudella and D Turbon Lack of founding Amerindian mitochondrial DNA lineages in extinct Aborigines from Tierra del Fuego-Patagonia P.41 A C W Ionides, V Berry, D S Mackay, A T Moore, S S Bhattacharya and A Shiels A locus for autosomal dominant posterior polar cataract on chromosome 1p P. 47 G Bignell, G Micklem, M R Stratton, A Ashworth and R Wooster The BRC repeats are conserved in mammalian BRCA2 proteins P.53 P J Mogayzel, Jr., K A Henning, M L Bittner, E A Novotny, E M Schwiebert, W B Guggino, Y Jiang and M A Rosenfeld Functional human CFTR produced by stable Chinese hamster ovary cell lines derived using yeast artificial chromosomes P. 59 D Broccoli, L Chong, S Oelmann, A A Fernald, N Marziliano, B van Steensel, D Kipling, M M Le Beau and T de Lange Comparison of the human and mouse genes encoding the telomeric protein, TRF1: chromosomal localization, expression and conserved protein domains P. 69 S Hofferbert, N C Schanen, F Chehab and U Francke Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the Repeat Expansion Detection method P. 77 H Teng, M Jorissen, H Van Poppel, E Legius, J-J Cassiman and H Cuppens Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells P. 85 J Meyer, P Sudbeck, M Held, T Wagner, M Lienhard Schmitz, F D Bricarelli, E Eggermont, U Friedrich, O A Haas, A Kobelt, J G Leroy, L Van Maldergem, E Michel, B Mitulla, R A Pfeiffer, A Schinzel, H Schmidt and G Scherer Mutational analyis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations P. 91 M Schwartz, N Sorensen, F J Hansen, J M Hertz, S Norby, L Tranebjaerg and F Skovby Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy P. 99 M G Dunlop, S M Farrington, A D Carothers, A H Wyllie, L Sharp, J Burn, B Liu, K W Kinzler and B Vogelstein Cancer risk associated with germline DNA mismatch repair gene mutations P. 105 G Levy, F Levi-Acobas, S Blanchard, S Gerber, D Larget-Piet, V Chenal, X-Z Liu, V Newton, K P Steel, S D M Brown, A Munnich, J Kaplan, C Petit and D Weil Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type 1B P. 111 V C Sheffield, M E Pierpont, D Nishimura, J S Beck, T L Burns, M A Berg, E M Stone, S R Patil and R M Lauer Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis P. 117 A Gladwin, D Donnai, K Metcalfe, C Schrander-Stumpel, L Brueton, A Verloes, A Aylsworth, H Toriello, R Winter and M Dixon Localisation of a gene for oculodentodigital syndrome to human chromosome 6q22-q24 P. 123 A J Jeffreys and R Neumann Somatic mutation processes at a human minisatellite P. 129 M Oldridge, P W Lunt, E H Zackai, D M McDonald-McGinn, M Muenke, D M Moloney, S R F Twigg, J K Heath, T D Howard, G Hoganson, D M Gagnon, E W Jabs and A O M Wilkie Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2 P. 137 =========================================== 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 1997 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 December 1996. If you would like further details about Human Molecular Genetics, including details of subscription rates, please contact:- Marion Tatham Journals Customer Services Oxford University Press Great Clarendon Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267907 Fax: +44 1865 267485 E-mail: jnl.info@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. 21/11/96 January issue page 4 ************************************************************************ 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 ************************************************************************