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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics preview - issue 4:11
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Fri, 29 Sep 1995 17:21:30 +0100

==============================================================
Human Molecular Genetics - ISSN 1964-6906
Volume 4, No 11
November 1995
==============================================================
Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA
==============================================================
CONTENTS
==============================================================


ARTICLES

Analysis of chromosome behaviour in intact mammalian oocytes:
monitoring the segregation of a univalent chromosome during
female meiosis
     P Hunt, R LeMaire, P Embury, L Sheean and
     K Mroz                                            P.2007

Recombination and allelic association in the Xq/Yq homology
region
     L Li and D H Hamer                                P.2013

Nuclear DNA origin of cytochrome c oxidase deficiency in
Leigh's syndrome: genetic evidence based on patient's-derived
rho transformants
     V Tiranti, M Munaro, D Sandona, E Lamantea, M Rimoldi,
     S DiDonato, R Bisson and M Zeviani                P.2017

The complete sequence of the coding region of the ATM gene
reveals similarity to cell cycle regulators in different species
     K Savitsky, S Sfez, D A Tagle, Y Ziv, A Sartiel,
     F S Collins, Y Shiloh and G Rotman                P.2025


REPORTS

Molecular characterization and chromosomal localization of DRT
(EPHT3): a developmentally regulated human protein-tyrosine
kinase gene of the EPH family
     N Ikegaki, X X Tang, X-G Liu, J A Biegel, C Allen,
     A Yoshioka, E P Sulman, G M Brodeur and
     D E Pleasure                                      P.2033

Detailed mapping and loss of heterozygosity analysis suggests a
suppressor locus involved in sporadic breast cancer within a
distal region of chromosome band 17p13.3
     M Stack, D Jones, G White, D S Liscia, T Venesio,
     G Casey, D Crichton, J Varley, E Mitchell, J Heighway
     and M Santibanez-Koref                            P.2047

Molecular analysis of mutations in mutator colorectal carcinoma
cell lines

     N P Bhattacharyya, A Ganesh, G Phear, B Richards,
     A Skandalis and M Meuth                           P.2057

Somatic mutations in the hMSH2 gene in microsatellite unstable
colorectal carcinomas
     A-L Borresen, R A Lothe, G I Meling, S Lystad,
     P Morrison, J Lipford, M F Kane, T O Rognum and
     R D Kolodner                                      P.2065

Physical mapping of the Tec and Gabrb1 loci reveals that the Wsh
mutation on mouse chromosome 5 is associated with an inversion
     D L Nagle, C A Kozak, H Mano, V M Chapman
     and M Bucan                                       P.2073

Three new adenosine deaminase mutations that define a splicing
enhancer and cause severe and partial phenotypes: implications
for evolution of a CpG hotspot and expression of a transduced ADA
cDNA
     I Santisteban, F X Arredondo-Vega, S Kelly, M Loubser,
     N Meydan, C Roifman, P L Howell, T Bowen, K I Weinberg,
     M L Schroeder and M S Hershfield                  P.2081

Interstitial deletion of the Endothelin-B receptor gene in the
spotting lethal (sl) rat
     I Ceccherini, A L Zhang, I Matera, G Yang, M Devoto,
     G Romeo and D T Cass                              P.2089

A common FGFR3 gene mutation in hypochondroplasia
     P Prinos, T Costa, A Sommer, M W Kilpatrick and
     P Tsipouras                                       P.2097

Normal phenotype in two brothers with a full FMR1 mutation
     H J M Smeets, A P T Smits, C E Verheij, J P G Theelan,
     R Willemsen, I van de Burgt, A T Hoogeveen, J C Oosterwijk
     and B A Oostra                                    P.2103

A promoter within intron 35 of the human C4A gene initiates
abundant adrenal-specific transcription of a 1 kb RNA: location
of a cryptic CYP21 promoter element?
     M K Tee, G O Babalola, P Aza-Blanc, M Speek, S E Gitelman
     and W L Miller                                    P.2109

Gene amplification of the Menkes (MNK;ATP7A) P-type ATPase gene
of CHO cells is associated with copper resistance and enhanced
copper efflux
     J Camakaris, M J Petris, L Bailey, P Shen,
     P Lockhart, T W Glover, C L Barcroft, J Patton
     and J F B Mercer                                  P.2117

A mutation (T-45C) in the promoter region of the low-density-
lipoprotein (LDL)-receptor gene is associated with a mild
clinical phenotype in a patient with heterozygous familial
hypercholesterolaemia (FH)
     X-M Sun, C Neuwirth, D P Wade, B L Knight
     and A K Soutar                                    P.2125

The mutational spectrum in Waardenburg syndrome
     M Tassabehji, V E Newton, X-Z Liu, A Brady, D Donnai,
     M Krajewska-Walasek, V Murday, A Norman, E Obersztyn,
     W Reardon, J C Rice, R Trembath, P Wieacker, M Whiteford,
     R Winter and A P Read                             P.2131

Molecular analysis of de novo germline mutations in the von
Hippel-Lindau disease gene
     F M Richards, S J Payne, B Zbar, N A Affara,
     M A Ferguson-Smith and E R Maher                  P.2139

A duplication/paracentric inversion associated with familial X-
linked deafness (DFN3) suggests the presence of a regulatory
element more than 400 kb upstream of the POU3F4 gene
     Y J M de Kok, G F M Merkx, S M van der Maarel,
     I Huber, S Malcolm, H-H Ropers and F P M Cremers  P.2145


LINKAGE REPORTS

A new locus for arrhythmogenic right ventricular cardiomyopathy
(ARVD2) maps to chromosome 1q42-q43
     A Rampazzo, A Nava, P Erne, M Eberhard, E Vian,
     P Slomp, N Tiso, G Thiene and G A Danieli         P.2151

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic
nephrotic syndrome confirms a distinct entity of autosomal
recessive nephrosis
     A Fuchshuber, G Jean, O Gribouval, M-C Gubler, M Broyer,
     J S Beckmann, P Niaudet and C Antignac            P.2155

Localization of a gene for non-syndromic hearing loss (DFNA5) to
chromosome 7p15
     G Van Camp, P Coucke, W Balemans, D Van Velzen,
     C Van de Bilt, L Van Laer, R J H Smith, K Fukushima,
     G W Padberg, R R Frants, P Van de Heyning, S D Smith,
     E H Huizing and P J Willems                       P.2159

A second autosomal split hand/split foot locus maps to chromosome
10q24-q25
     M E Nunes, G Schutt, R P Kapur, F Luthardt, M Kukolich,
     P Byers and J P Evans                             P.2165


MUTATION REPORTS

A G+1->A transversion at the 5' splice site of intron 69 of the
dystrophin gene causing the absence of peripheral nerve Dp116 and
severe clinical involvement in a DMD patient
     G P Comi, E Ciafaloni, R H A de Silva, A Prelle,
     A Bardoni, C Rigoletto, M Robotti, N Bresolin, M Moggio,
     F Fortunato, P Ciscato, A Turconi, A D Rose
     and G Scarlato                                    P.2171

Another mutation that results in the substitution of an unpaired
cysteine residue in the extracellular domain of FGFR3 in
thanatophoric dysplasia type I
     P L Tavormina, D L Rimoin, D H Cohn, Y-Z Zhu,
     R Shiang and J J Wasmuth                          P.2175

A novel mutation in the Norrie disease gene predicted to disrupt
the cystine knot growth factor motif
     P Strasberg, H A Liede, T Stein, I Warren,
     J Sutherland and P N Ray                          P.2179

Germline mosaicism in a female who seemed to be a carrier by
sequence analysis
     S S Sommer, A Knoll, C R Greenberg and
     R P Ketterling                                    P.2181

Mutation of PAX2 in two siblings with renal-coloboma syndrome
     P Sanyanusin, L A McNoe, M J Sullivan,
     R Grey Weaver and M R Eccles                      P.2183




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

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 November 1995 issue,
which is shortly to be printed. Copies are scheduled for
despatch to subscribers on 20 October 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.


   
 
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