HUM-MOLGEN archive: LITE: Preview Human Molecular Genetics 4:12 (dec 1995 issue)

============================================= Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 12 December 1995 ============================================= Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ============================================= CONTENTS ============================================= ARTICLES Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C AND CENP-E are necessary components of functional centromeres B A Sullivan and S Schwartz P.2189 Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions E E Eichler, H A Hammond, J N Macpherson, P A Ward and D L Nelson P.2199 Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1 J F Coy, Z Sedlacek, D Bachner, H Hameister, S Joos, P Lichter, H Delius and A Poustka P.2209 Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation Y Labelle, J Zucman, G Stenman, L-G Kindblom, J Knight, C Turc-Carel, B Dockhorn-Dworniczak, N Mandahl, C Desmaze, M Peter, A Aurias, O Delattre and G Thomas P.2219 REPORTS Non-disjunction in human sperm: evidence for an effect of increasing paternal age D K Griffin, M A Abruzzo, E A Millie, L A Sheean, E Feingold, S L Sherman and T J Hassold P.2227 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL Clinical Research Group for VHL in Japan P.2233 Stability of the Huntington disease (CAG)n repeat in a late- onset form occurring on the Island of Crete M Tzagournissakis, C O Fesdjian, P Shashidharan and A Plaitakis P.2239 Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5- bisphophate 5-phosphatase in the Golgi apparatus S F Suchy, I M Olivos-Glander and R L Nussbaum P.2245 Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene V M Steen, A Molven, N K Aarskog and A-K Gulbrandsen P.2251 Distinct transcription start sites generate two forms of BRCA1 mRNA C-F Xu, M A Brown, J A Chambers, B Griffiths, H Nicolai and E Solomon P.2259 Mouse Brca1: localization, sequence analysis and identification of evolutionarily conserved domains K J Abel, Junzhe X, G-Y Yin, R H Lyons, M H Meisler and B L Weber P.2265 Murine Brca1: sequence and significance for human missense mutations S K Sharan, M Wims and A Bradley P.2275 Liposome-mediated gene transfer and expression via the skin M Y Alexander and R J Akhurst P.2279 Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci H Kawame, S M Gartler and R S Hansen P.2287 Mutation analysis of the TSC2 gene in an African-American family A Kumar, R S Kandt, C Wolpert, A D Roses, M A Pericak-Vance and J R Gilbert P.2295 T->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia M-K Tee, D Lin, T Sugawara, J A Holt, Y Guiguen, B Buckingham, J F Strauss III and W L Miller P.2299 RBM3, a novel human gene in Xp11.23 with a putative RNA- binding domain J M J Derry, J A Kerns and U Francke P.2307 Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid carcinoma P A Smanik, T L Furminger, E L Mazzaferri and S M Jhiang P.2313 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism M V Schiaffino, M T Bassi, L Galli, A Renieri, M Bruttini, F De Nigris, A A B Bergen, S J Charles, J R W Yates, A Meindl, R A Lewis, R A King and A Ballabio P.2319 Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP H Kiyosawa, M W Lensch and P F Chance P.2327 Characterization of the large deletion in the GALC gene found in patients with Krabbe disease P Luzi, M A Rafi and D A Wenger P.2335 A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa A Meindl, M R S Carvalho, K Herrmann, B Lorenz, H Achatz, B Lorenz, E Apfelstedt-Sylla, B Wittwer, M Ross and T Meitinger P.2339 Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3) K L Dry, M A Aldred, A J Edgar, J Brown, F D C Manson, M-F Ho, J Prosser, L J Hardwick, A A Lennon, K Thomson, M Van Keuren, D M Kurnit, A C Bird, M Jay, A P Monaco and A F Wright P.2347 Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma R J Davis, J L Bennicelli, R A Macina, L M Nycum, J A Biegel and F G Barr P.2355 Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3 M Cruts, H Backhovens, S-Y Wang, G Van Gassen, J Theuns, C De Jonghe, A Wehnert, J De Voecht, G De Winter, P Cras, M Bruyland, N Datson, J Weissenbach, J T den Dunnen, J-J Martin, L Hendriks and C Van Broeckhoven P.2363 Mutations of the presenilin I gene in families with early-onset Alzheimer's disease D Campion, J-M Flaman, A Brice, D Hannequin, B Dubois, C Martin, V Moreau, F Charbonnier, O Didierjean, S Tardieu, C Penet, M Puel, F Pasquier, F Le Doze, G Bellis, A Calenda, R Heilig, M Martinez, J Mallet, M Bellis, F Clerget-Darpoux, Y Agid and T Frebourg P.2373 Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain W Reik, K W Brown, H Schneid, Y Le Bouc, W Bickmore and E R Maher P.2379 LINKAGE REPORTS Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyra to human chromosome 1q23 A G Roberts, S D Whatley, J Daniels, P Holmans, I Fenton, M J Owen, P Thompson, C Long and G H Elder P.2387 A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus P K Jain, K Fukushima, D Deshmukh, A Ramesh, E Thomas, A K Lalwani, S Kumar, B Ploplis, H Skarka, C R Srikumari Srisailapathy, S Wayne, R I S Zbar, I C Verma, R J H Smith and E R Wilcox P.2391 Linkage of congenital hereditary endothelial dystrophy to chromosome 20 N M G Toma, N D Ebenezer, C F Inglehearn, C Plant, L A Ficker and S S Bhattacharya P.2395 A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 E Healy, S C Holmes, C E Belgaid, A M Stephenson, W H I McLean, J L Rees and C S Munro P.2399 MUTATION REPORTS Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase I Vorechovsky, Liping Luo, G de Saint Basile, L Hammarstrom, A D B Webster and C I E Smith P.2403 Mutation of the endothelin-receptor B gene in Waardenburg- Hirschsprung disease T Attie, M Till, A Pelet, J Amiel, P Edery, L Boutrand, A Munnich and S Lyonnet P.2407 A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1 F Quan, J Janas and B W Popovich P.2411 A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3 in Sorsby's fundus dystrophy with unusual clinical features U Felbor, H Stohr, T Amann, U Schonherr and B H F Weber P.2415 Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome A Levy, S Demczuk, A Aurias, D Depetris, M-G Mattei and N Philip P.2417 ============================================= 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 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 1 December 1995. 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.