Human Molecular Genetics: January 1996 (Volume 5, No 1)

IMPORTANT NOTICE

With immediate effect, some changes have been
made to the Instructions to Authors for Human Molecular Genetics, in
particular a change in address for submissions from outside the USA. The
revised Instructions to Authors can be found in the January 1996 issue of
Human Molecular Genetics. You can also find them on the World Wide
Web. Simply go to the Human Molecular Genetics home page.

Alternatively, if you would like a copy of
the revised Instructions to Authors sent to you by mail, fax, or e-mail,
contact Richard Gedye at the Oxford University Press - details at the
bottom of the Table of Contents below.

ARTICLES

Dramatically different phenotypes in mouse models of human
Tay-Sachs and Sandhoff diseases
D Phaneuf, N Wakamatsu, J-Q Huang, A Borowski,
A C Peterson, S R Fortunato, G Ritter, S A Igdoura,
C R Morales, G Benoit, B R Akerman, D Leclerc, N Hanai,
J D Marth, J M Trasler, and R A Gravel P.1

In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion
genes in alveolar rhabdomyosarcoma
F G Barr, L E Nauta, R J Davis, B W Schafer, L M Nycum,
and J A Biegel P.15

Human pseudoautosomal boundary-like sequences: expression and
involvement in evolutionary formation of the present-day
pseudoautosomal boundary of human sex chromosomes
T Fukagawa, Y Nakamura, K Okumura, M Nogami,
A Ando, H Inoko, N Saitou and T Ikemura P.23

Cloning and developmental expression analysis of the murine
homolog of the spinocerebellar ataxia type 1 gene (Sca1)
S Banfi, A Servadio, M-y Chung, F Capozzoli,
L A Duvick, R Elde, H Y Zoghbi and H T Orr P.33

Cloning and characterization of a murine brain specific gene Bpx
and its human homologue lying within the Xic candidate region
C Rougeulle and P Avner P.41

An animal model for Norrie disease (ND): gene targeting of the
mouse ND gene
W Berger, D van de Pol, D Bachner, F Oerlemans,
H Winkens, H Hameister, B Wieringa, W Hendriks,
and H-H Ropers P.51

REPORTS

Structural analysis of the minisatellite present at the 3' end of the
human apolipoprotein B gene: new definition of the alleles and
evolutionary implications
C Buresi, E Desmarais, S Vigneron, H Lamarti, N Smaoui,
F Cambien and G Roizes P.61

Isolation of a testis-specific cDNA on chromosome 17q from a
region adjacent to the breakpoint of t(12;17) observed in a patient
with acampomelic campomelic dysplasia and sex reversal
S Ninomiya, M Isomura, K Narahara, Y Seino,
and Y Nakamura P.69

A point mutation in the 5' splice of the dystrophin gene first
intron responsible for X-linked dilated cardiomyopathy
J Milasin, F Muntoni, G M Severini, L Bartoloni, M Vatta,
M Krajinovic, A Mateddu, C Angelini, F Camerini,
A Falaschi, L Mestroni, M Giacca, and the Heart Muscle
Disease Study Group P.73

Characterization of a nonsense mutation in the ceruloplasmin gene
resulting in diabetes and neurodegenerative disease
Y Takahashi, H Miyajima, S Shirabe, S Nagataki,
A Suenaga, and J D Gitlin P.81

Developmental expression of the Fac gene correlates with
congenital defects in Fanconi anemia patients
F Krasnoshtein and M Buchwald P.85

Alternative splicing of exon 14 determines nuclear or cytoplasmic
localisation of fmr1 protein isoforms
A Sittler, D Devys, C Weber and J-L Mandel P.95

A de novo case of hereditary neuropathy with liability to pressure
palsies (HNPP) of maternal origin: a new mechanism for deletion
in 17p11.2?
E LeGuern, R Gouider, N Ravise, J Lopes, S Tardieu,
M Gugenheim, N Abbas, P Bouche, Y Agid and A Brice P.103

Bi-directional dideoxy fingerprinting (Bi-ddF) : a rapid method for
quantitative detection of mutations in genomic regions of 300-600
bp
Q Liu, J Feng and S S Sommer P.107

Novel proteins with binding specificity for DNA CTG repeats and
RNA CUG repeats: implications for myotonic dystrophy
L T Timchenko, N A Timchenko, C T Caskey,
and R Roberts P.115

Complex I deficiency is associated with 3243G:C mitochondrial
DNA in osteosarcoma cell cybrids
D R Dunbar, P A Moonie, M Zeviani and I J Holt P.123

Comparative analysis and genomic structure of the tuberous
sclerosis 2 (TSC2) gene in human and pufferfish
M M Maheshwar, R Sandford, M Nellist, J P Cheadle,
B Sgotto, M Vaudin and J R Sampson P.131

Deletions of Xq28 in two boys with myotubular myopathy and
abnormal genital development define a new contiguous gene
syndrome in a 430 kb region
L-J Hu, J Laporte, W Kress, P Kioschis, R Siebenhaar,
A Poustka, M Fardeau, A Metzenberg, E A Janssen,
N Thomas, J L Mandel and N Dahl P.139

Mutations revealed by sequencing the 5' half of the gene for
ataxia telangiectasia
P J Byrd, C M McConville, P Cooper, J Parkhill,
T Stankovic, G M McGuire, J A Thick and A M R Taylor P.145

LINKAGE REPORTS

Localization of the gene for rapidly progressive autosomal
dominant parkinsonism and dementia with pallido-ponto-nigral
degeneration to chromosome 17q21
M Wijker, Z K Wszolek, E C H Wolters, M A Rooimans,
G Pals, R F Pfeiffer, T Lynch, R L Rodnitzky,
K C Wilhelmsen and F Arwert P.151

A gene responsible for a sensorineural nonsyndromic recessive
deafness maps to chromosome 2p22-23
H Chaib, C Place, N Salem, S Chardenoux, C Vincent,
J Weissenbach, E El-Zir, J Loiselet and C Petit P.155

Hereditary inclusion body myopathy maps to chromosome 9p1-q1
S Mitrani-Rosenbaum, Z Argov, A Blumenfeld,
C E Seidman and J G Seidman P.159

Autosomal recessive non-syndromic deafness locus (DFNB8) maps
on chromosome 21q22 in a large consanguineous kindred from
Pakistan
A Veske, R Oehlmann, F Younus, A Mohyuddin,
B Muller-Myhsok, S Qasim Mehdi and A Gal P.165

Linkage studies on non-syndromic recessive deafness (NSRD) in a
family originating from the Mirpur region of Pakistan maps DFNB1
centromeric to D13S175
K A Brown, A H Janjua, G Karbani, G Parry, A Noble,
G Crockford, D T Bishop, V E Newton, A F Markham
and R F Mueller P.169

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 1996 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:-

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.