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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular genetics - September contents
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Wed, 2 Aug 1995 12:59:34 +0100

==============================================================
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.


   
 
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