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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: LITE: Human Molecular Genetics 07:02
From: Arthur Bergen <a.bergen@ioi.knaw.nl>
Date: Thu, 8 Jan 1998 15:04:17 MET
Organization: ioi.knaw.nl
Priority: normal

============================================
Human Molecular Genetics - ISSN 1964-6906
Volume 7  No 2
February 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"

============================================

Comparative analysis of the phosphomannomutase
genes PMM1, PMM2 and PMM2psi: the sequence
variation in the processed pseudogene is a
reflection of the mutations found in the functional
gene pp.157-164.
                E. Schollen, E. Pardon, L. Heykants,
                J. Renard, N.A. Doggett, D.F. Callen,
                J.-J. Cassiman and G. Matthijs


Molecular and clinical correlations in autosomal
dominant cerebellar ataxia with progressive
macular dystrophy (SCA7) pp. 165-170.
                G. David, A. Durr, G. Stevanin, G. Cancel,
                N. Abbas, A. Benomar, S. Belal,
                A.-S. Lebre, M. Abada-Bendib,
                D. Grid, M. Holmberg, M. Yahyaoui,
                F. Hentati, T. Chkili, Y. Agid and
                A. Brice.


Expanded CAG repeats in Swedish spinocerebellar
ataxia type 7 (SCA7) patients: effect of CAG repeat
length on the clinical manifestation pp. 171-176.
                J. Johansson, L. Forsgren, O. Sandgren,
                A. Brice, G. Holmgren and M. Holmberg.


Molecular genetic analysis of autosomal dominant
cerebellar ataxia with retinal degeneration (ADCA
type II) caused by CAG triplet repeat expansion
pp. 177-186.
                J. Del-Favero, L. Krols, A. Michalik,
                J. Theuns, A. Lofgren, D. Goossens,
                A. Wehnert, D. Van den Bossche,
                K. Van Zand, H. Backhovens,
                N. van Regenmorter, J.-J. Martin and
                C. Van Broeckhoven.


HLA-DR alleles display sex-dependent effects on
survival and discriminate between individual and
familial longevity pp. 187-194.
                R. Ivanova, N. Henon, V. Lepage,
                D. Charron, E. Vicaut and F. Schachter.


Mutations in the BRCA1-associated RING domain
(BARD1) gene in primary breast, ovarian and
uterine cancers pp. 195-202.
                T.H. Thai, F. Du, J. Tsou Tsan, Y. Jin,
                A. Phung, M.A. Spillman, H.F. Massa,
                C.Y. Muller, R. Ashfaq, J.M. Mathis,
                D.S. Miller, B.J. Trask, R. Baer and
                A.M. Bowcock.


Mutations in the canalicular multispecific organic
anion transporter (cMOAT) gene, a novel ABC
transporter, in patients with hyperbilirubinemia
II/Dubin-Johnson syndrome pp. 203-207
                M. Wada, S. Toh, K. Taniguchi,
                T. Nakamura, T. Uchiumi, K. Kohno,
                I. Yoshida, A. Kimura, S. Sakisaka,
                Y. Adachi and M. Kuwano.


Prevalence of p16 and CDK4 germline mutations
in 48 melanoma-prone families in France
pp. 209-216.
                N. Soufir, M.-F. Avril, A. Chompret,
                F. Demenais, J. Bombled, A. Spatz,
                D. Stoppa-Lyonnet, The French Familial
                Melanoma Study Group, J. Benard and
                B. Bressac-de Paillerets.


Impaired interaction of naturally occurring
mutant NF2 protein with actin-based cytoskeleton
and membrane pp. 217-226.
                B. Deguen, P. Merel, L. Goutebroze,
                M. Giovannini, H. Reggio, M. Arpin
                and G. Thomas.


DSCAM: a novel member of the immunoglobulin
superfamily maps in a Down syndrome region and
is involved in the development of the nervous
system pp. 227-237.
                K. Yamakawa, Y.-K. Huo, M.A. Haendel,
                R. Hubert, X.-N. Chen, G.E. Lyons and
                J.R. Korenberg.


Suppression of peroxisomal membrane protein
defects by peroxisomal ATP binding cassette
(ABC) proteins pp. 239-247.
                L.T. Braiterman, S. Zheng,
                P.A. Watkins, M.T. Geraghty, G. Johnson,
                M.C. McGuinness, A.B Moser and
                K.D. Smith.


Mutations of the alpha2(V) chain of type V
collagen impair matrix assembly and produce
Ehlers-Danlos syndrome type 1 pp. 249-255.
                K. Michalickova, M. Susic, M.C. Willing,
                R.J. Wenstrup and W.G. Cole.


Significant impact of the +93 C/T polymorphism in
the apolipoprotein(a) gene on Lp(a) concentrations
in Africans but not in Caucasians: confounding
effect of linkage disequilibrium pp. 257-264.
                H.-G. Kraft, M. Windegger, H.J. Menzel
                and G. Utermann.


Mice with an aspartylglucosaminuria mutation
similar to humans replicate the pathophysiology in
patients pp.265-272.
                A. Jalanko, K. Tenhunen, C.E. McKinney,
                M.E. LaMarca, J. Rapola, T. Autti,
                R. Joensuu, T. Manninen, I. Sipila,
                S. Ikonen, P. Riekkinen Jr, E.I. Ginns
                and L. Peltonen.


A mutation in guanylate cyclase activator 1A
(GUCA1A) in an autosomal dominant cone
dystrophy pedigree mapping to a new locus on
chromosome 6p21.1  pp 273-277.
                A.M. Payne, S.M. Downes,
                D.A.R. Bessant, R. Taylor, G.E. Holder,
                M.J. Warren, A.C. Bird and
                S.S. Bhattacharya.


A candidate mammalian DNA methyltransferase
related to pmt1p of fission yeast pp. 279-284.
                J.A. Yoder and T.H. Bestor.


Localization of a gene for otosclerosis to
chromosome 15q25-q26 pp. 285-290.
                M.S. Tomek, M.R. Brown, S.R. Mani,
                A. Ramesh, C.R. Srikumari
                Srisailapathy, P. Coucke, R.I.S. Zbar,
                A.M. Bell, W.T. McGuirt, K. Fukushima,
                P.J. Willems, G. Van Camp and
                R.J.H. Smith.


Mutations in the palmitoyl-protein thioesterase
gene (PPT; CLN1) causing juvenile neuronal ceroid
lipofuscinosis with granular osmiophilic deposits
pp. 291-297.
                H.M. Mitchison, S.L. Hofmann,
                C.H.R. Becerra, P.B. Munroe, B.D. Lake,
                Y.J. Crow, J.B.P. Stephenson,
                R.E. Williams, I.L. Hofman,
                P.E.M. Taschner, J.-J. Martin,
                M. Philippart, E. Andermann,
                F. Andermann, S.E. Mole, R.M. Gardiner
                and A.M. O'Rawe.


The human FXY gene is located within Xp22.3:
implications for the evolution of the mammalian X
chromosome pp. 299-305.
                J. Perry, S. Feather, A. Smith, S. Palmer
                and A. Ashworth.


Progression of somatic CTG repeat length
heterogeneity in the blood cells of myotonic
dystrophy patients pp. 307-312.
                L. Martorell, D.G. Monckton, J. Gamez,
                K.J. Johnson, I. Gich, A. Lopez de
                Munain and M. Baiget.


A point mutation in the neu-1 locus causes the
neuraminidase defect in the SM/J mouse
pp. 313-321.
                R.J. Rottier, E. Bonten and A. d'Azzo.

============================================

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
February 1998 issue, which is shortly to be
printed. Copies are scheduled for despatch
to subscribers on 1 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
************************************************************************


************************************************************************
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
************************************************************************


************************************************************************
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
************************************************************************


   
 
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