HUM-MOLGEN archive: LITE: Human Molecular genetics

============================================================== Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 9 September 1995 ============================================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ============================================================== CONTENTS ============================================================== ARTICLES Cloning and characterization of alternatively spliced isoforms of Dp71 R C Austin, P L Howard, V N D'Souza, H J Klamut and P N Ray. P.1475 Population genetics of trinucleotide repeat polymorphisms W S Watkins, M Bamshad and L B Jorde P.1485 Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli S I Goodman, L E Kratz, K A DiGiulio, B J Biery, K E Goodman, G Isaya and F E Frerman. P.1493 A novel L23-related gene 40kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues P Tsang, F Gilles, L Yuan, Y-H Kuo, F Lupu, G Samara, J Moosikasuwan, A Goye, A D Zelenetz, L Selleri and B Tycko. P.1499 cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization F Tassone, H Xu, H Burkin, S Weissman and K Gardiner. P.1509 Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum E P Leeflang, L Zhang, S Tavare, R Hubert, J Srinidhi, M E MacDonald, R H Myers, M de Young, N S Wexler, J F Gusella and N Arnheim. P.1519 The upstream stimulatory factor functionally interacts with the Alzheimer amyloid beta-protein precursor gene D M Kovacs, W Wasco, J Witherby, K M Felsenstein, F Brunel, R G Roeder and R E Tanzi. P.1527 Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels F P Mancini, V Mooser, R Guerra and H Hobbs. P.1535 REPORTS A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia P W A Reymer, B E Groenemeyer, E Gagne, L Miao, E E G Appelman, J C Seidel, D Kromhout, S M Bijvoet, K van de Oever, T Bruin, M R Hayden and J J P Kastelein. P1543 Candidate regions for a testicular cancer susceptibility gene M G Leahy, S Tonks, J H Moses, A R Brett, R Huddart, D Forman, R T D Oliver, D T Bishop and J G Bodmer. P.1551 A muscle-specific DNase I-like gene in human Xq28 J E Parrish, A Ciccodicola, M Wehnert, G F Cox, E Chen and D L Nelson. P.1557 Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata S Barbaux, E Vilain, O Raoul, S Gilgenkrantz, E Jeandidier, D Chadenas, N Souleyreau, M Fellous and K McElreavey. P.1565 p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer M P Williamson, P A Elder, M E Shaw, J Devlin and M A Knowles. P.1569 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen A M Christiano, J Y-Y Lee, W J Chen, S LaForgia and J Uitto. P.1579 Sequence variation and size ranges of CAG repeats in the Machado- Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes D C Rubinsztein, J Leggo, G A Coetzee, R A Irvine, M Buckley and M A Ferguson-Smith. P.1585 The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines J N Spelbrink and C Van den Bogert. P.1591 The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments S L Hart, E Mayall, M Stern, F M Munkonge, A Frost, L Huang, M Vasilliou, R Williamson, E W F W Alton and C Coutelle. P.1597 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia Q Wang, J Shen, Z Li, K Timothy, G M Vincent, S G Priori, P J Schwartz and M T Keating. P.1603 Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect? S C L Gough, P J Saker, L E Pritchard, T R Merriman, M E Merriman, B R Rowe, S Kumar, T Aitman, A H Barnett, R C Turner, S C Bain and J A Todd. P.1609 The genes for a spliceosome protein (SAP62) and the anti- Mullerian hormone (AMH) are contiguous D W Dresser, A Hacker, R Lovell-Badge and D Guerrier. P.1613 Predominant neuronal expression of the gene repsonsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat I Schmitt, J T Epplen and O Riess P.1619 LINKAGE REPORTS Familial non-specific dementia maps to chromosome 3 J Brown, A Ashworth, S Gydesen, A Sorensen, M Rossor, J Hardy and J Collinge. P.1625 Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p K Christodoulou, T Kyriakides, A H Hristova, D M Georgiou, L Kalaydjieva, B Yshpekova, T Ivanova, J L Weber and L T Middleton. P.1629 Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping S Nicole, C B Hamida, P Beighton, S Bakouri, S Belal, N Romero, D Viljoen, G Ponsot, A Sammoud, J Weissenbach, M Fardeau, M B Hamida, B Fontaine and F Hentati. P.1633 Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population C T Baldwin, S Weiss, L A Farrer, A L De Stefano, R Adair, B Franklyn, K K Kidd, M Korostishevsky and B Bonne-Tamir. P.1637 Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q K Fukushima, A Ramesh, C R S Srisailapathy, L Ni, A Chen, M O'Neill, G Van Camp, P Coucke, S D Smith, J B Kenyon, Pawain Jain, E R Wilcox, R I S Zbar and R J H Smith. P.1643 Linkage of the gene that encodes the alpha1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) J Loughlin, C Irven, L J Hardwick, S Butcher, S Walsh, P Wordsworth and B Sykes. P.1649 Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q R E Kelsell, B F Godley, K Evans, P A C Tiffin, C Y Gregory, C Plant, A T Moore, A C Bird and D M Hunt. P.1653 The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q J M Serratosa, A V Delgado-Escueta, I Posada, S Shih, I Drury, J Berciano, J A Zabala, M C Antunez and R S Sparkes. P.1657 Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3 K Fukai, J Oh, E Frenk, C Almodovar and R A Spritz. P.1665 MUTATION REPORTS Identification of two new KCNA1 mutations in episodic ataxia/myokymia families D L Browne, E R P Brunt, R C Griggs, J G Nutt, S T Gancher, E A Smith and M Litt. P.1671 Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases E LeGuern, R Gouider, J Lopes, N Abbas, M Gugenheim, S Tardieu, N Ravise, J-M Leger, J M Vallat, P Bouche, Y Agid, A Brice and the French CMT Collaborative Research Group. P.1673 Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the GsAlpha gene A Shenker, P Chanson, L S Weinstein, P Chi, A M Spiegel, A Lomri and P J Marie. P.1675 A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis T Olson, V V Michels, Z Urban, K Csiszar, A M Christiano, D J Driscoll, R H Feldt, C D Boyd and S N Thibodeau. P.1677 Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism F Quan, M Grompe, P Jakobs and B W Popovich. P.1681 A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients J E Cleaver, W C Charles, G H Thomas and M L McDowell. P.1685 Multiple independent occurrence of the 3243 mutation in mitochondrial tRNAleuUUR in patients with the MELAS phenotype K J Morten, J Poulton and B Sykes. P.1689 Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency C Tassara, A E Pepper and J M Puck. P.1693 ============================================================== 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 September 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on the 22 August 1995. If you would like further details about Human Molecular Genetics, including instructions to authors or 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.