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