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DECEMBE
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Spindlemicrotubules
Centromeric DNA
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Kinetochore
1OIRL PRESS
itOXFORD IMVERSITY PRESSOxford New York Tokyo
- • • " . - - - : - ISSN 0%4 69Ofc Coden H M C H S
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HumanMolecularGenetics
Executive Editors
Kay E.Davies, Oxford, UKHuntington F.Willard, Cleveland, OH, USA
Editor, DNA Markers and Polymorphisms
Peter Pearson, Baltimore, MD, USA
Editorial Board
Philip Avner, ParisAndrea Ballabio, HoustonArthur Beaudet, HoustonJohn Bell, OxfordAdrian Bird, EdinburghStephen Brown, LondonFrancis Collins, Ann ArborPeter Goodfellow, LondonPhilip Heiter, BaltimoreLaurence Kedes, Los AngelesKatherine Klinger, FraminghamEric Lander, CambridgeJaques Mallet, Gif-sur-YvetteJean-Louis Mandel, StrasbourgRichard Myers, San FranciscoYusuke Nakamura, TokyoBen Oostra, RotterdamDavid Porteous, EdinburghAnnemarie Poustka, HeidelbergSusan Povey, LondonStephen Reeders, New HavenArthur Riggs, DuarteHans-Hilger Ropers, NijmegenLarry Shapiro, San FranciscoGrant Sutherland, AdelaidePaul Tolstoshev, GaithersburgLap-Chee Tsui, TorontoDavid Valle, BaltimoreGert-jan van Ommen, LeidenStephen Warren, AtlantaDavid Weatherall, OxfordCarol Westbrook, ChicagoRobert Williamson, London
Editorial and Production
Sarah Brennan, Production EditorJaqueline Grainger, Production AssistantHelen Blaber, UK Editorial officeCarol Cook, US Editorial officeGordon Tweedie, US Editorial office
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Contents Human Molecular GeneticsVolume 1 number 9 December 1992
MINI REVIEW
La carte des microsatellites est arrivee
COMMENTARY
Centromeres—primary constrictions are primarilycomplicated
ORIGINAL ARTICLES
Cloning and mapping of the a-adducin gene close toD4S95 and assessment of its relationship to Huntingtondisease
Human apurinic endonuclease gene (APE): structureand genomic mapping (chromosome 14qll.2 —12)
Serotonin receptor lc gene assigned to X chromosomein human (band q24) and mouse (bands D—F4)
Genetic linkage of autosomal dominant neovascularinflammatory vitreoretinopathy to chromosome Ilql3
Structure and expression of the human pseudoautosomalgene XE7
A novel G protein-coupled receptor kinase gene clonedfrom 4pl6.3
Cloning and characterization of an interstitial deletionat chromosome Ilpl5 in a sporadic breast cancer
High frequencies in African and non-Africanpopulations of independent mutations in the mannosebinding protein gene
Molecular isolation and characterization of an expressedgene from the human Y chromosome
The genomic organization of a novel regulatory myosinlight chain gene (MYL5) that maps to chromosome4pl6.3 and shows different patterns of expressionbetween primates
Analysis of mutations at the neuroflbromatosis 1 (NF1)locus
Microdissection of a human marker chromosome revealsit origin and a new family of centromeric repetitiveDNA
SHORT REPORTS
XCM8, a human sequence with putative centromericfunction, does not map to the centromere but is presentin one to two copies at 9qter
The putative centromere-forming sequence XCM8 is asingle copy sequence and is not a component of mosthuman centromeres
J.A.Todd 663
H.F.Willard 667
Y.P.Goldberg, B.-Y.Lin, S.E.Andrew, J.Nasir, 669R.Graham, M.L.Glaves, G.Hutchinson, J.Theilmann,D.G.Ginzinger, K.Schappert, L.Clarke,J.M.Rommens and M.R.Hayden
L.Harrison, G.Ascione, J.C.Menninger, D.C.Ward 677and B.Demple
A.Milatovich, C.-L.Hsieh, G.Bonaminio, L.Tecott, 681D.Julius and U.Francke
E.M.Stone, A.E.Kimura, J.C.Folk, S.R.Bennett, 685B.E.Nichols, L.M.Streb and V.C.Sheffield
J.W.Ellison, C.Ramos, P.H.Yen and L.J.Shapiro 691
C.Ambrose, M.James, G.Barnes, C.Lin, G.Bates, 697M.Altherr, M.Duyao, N.Groot, D.Church,J.J.Wasmuth, H.Lehrach, D.Housman, A.Buckler,J.F.Gusella and M.E.MacDonald
M.Miyagi, J.Inazawa, K.Takita and Y.Nakamura 705
R.J.Lipscombe, M.Sumiya, A.V.S.Hill, Y.L.Lau, 709R.J.Levinsky, J.A.Summerfield and M.W.Turner
J.S.Zhang, T.L.Yang-Feng, U.Muller, 717T.K.Mohandas, P.J.de Jong and Y.-F.C.Lau
C.Collins, K.Schappert and M.R.Hayden 727
M.Upadhyaya, M.Shen, A. Cherry son, J.Farnham, 735J.Maynard, S.M.Huson and P.S.Harper
D.H.Johnson, P.M.Kroisel, H.J.KJapper 741and W.Rosenkranz
N.I.McGill, J.Fantes and H.Cooke 749
K.F.Cooper and C.Tyler-Smith 753
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Contents (continued)Human Molecular GeneticsVolume 1 number 9 December 1992
Mutation R468W of the iduronate-2-sulfatase gene inmild Hunter syndrome (mucopolysaccharidosis type II)confirmed by in vitro mutagenesis and expression
A new Tay- Sachs disease Bl allele in exon 7 in twocompound heterozygotes each with a second novelmutation
P.L.Crotty, S.E.Braun, R.A.Anderson 755and C.B.Whitley
M.Fernandes, F.Kaplan, M.Natowicz, E.Prence, 759E.Kolodny, M.Kaback and P.Hechtman
MUTATION REPORTS
A new 15 bp deletion in exon 11 of the phenylalaninehydroxylase gene in phenylketonuria
A new PKU mutation associated with haplotype 12
A single cytosine deletion in exon 18 of the vonWillebrand factor gene is the most common mutation inSwedish vWD type HI patients
Autosomal dominant Retinitis Pigmentosa: a novelmutation in the rhodopsin gene in the original 3q linkedfamily
J.Jaruzelska, D.Melle, R.Matuszak, K.Borski 763
and A.Munnich
L.R.Desviat, B.Pdrez and M.Ugarte 765
Z.P.Zhang, G.Falk, M.Blomback, N.Egberg 767and M.Anvret
G.J.Farrar, J.B.C.Findlay, R.Kumar-Singh, P.Kerma, *769M.M.Humphries, E.Sharpe and P.Humphries
DNA MARKERS AND POLYMORPHISMS
Four dinucleotide repeat polymorphisms on humanchromosome 16 at D16S289, D16S318, D16S319 andD16S320
A highly polymorphic polypurine sequence onchromosome 8 (D8S210)
CGG repeat polymorphism at the c-Ha-ras oncogenelocus
Two dinucleotide repeat polymorphisms at the DXS571locus
Dinucleotide repeat polymorphisms at the D10S183 andD10S245 loci
Dinucleotide repeat polymorphism at the DXS559 locus
An Rsal polymorphism in the human serotonin receptorgene (HTR1A): detection by DGGE and RFLP analysis
Tetranucleotide repeat polymorphism at the humanalpha fibrinogen locus (FGA)
Dinucleotide repeat polymorphism at the D18S74E locus
Dinucleotide repeat polymorphism in the promoterregion of the human von Willebrand factor gene (vWFgene)
Polymorphic dinucleotide repeat in a cartilage matrixprotein (CRTM) gene
An informative microsatellite repeat polymorphism inthe human neurofilament light polypeptide (NEFL) gene
PCR detection of a dinucleotide repeat in the humanhistidine-rich glycoprotein (HRG) gene
Y.Shen, A.T.Thompson, K.Holman, D.F.Callen,G.R.Sutherland and R.I.Richards
H.M.Brereton, D.R.Turner, F.A.Firgairaand R.E.Ruffin
G.J.Riggins, L.K.Lokey and S.T.Warren
773
774
775
776A.R.J.Curtis, P.Roustan, S.Kamakari, D.Thiselton,S.Lindsay and S.S.Bhattacharya
R.A.Decker, B.A.Ponder, S.E.Mole and J.L.Weber 777
P.Roustan, A.R.J.Curtis, S.Kamakari, D.Thiselton, 778S.Lindsay and S.S.Bhattacharya
J.T.Warren Jr, M.L.Peacock and J.K.Fink 778
K.A.Mills, D.Even and J.C.Murray 779
M.H.Polymeropoulos, H.Xiao and C.R.Merri] 779
Z.P.Zhang, L.P.Deng, M.Blomback and M.Anvret 780
Y.Wang, L.Sadler and J.T.Hecht 780
E.Rogaev, E.Rogaeva, W.J.Lukiw, G.Vaula, 781Y.Liang, R.Hancock, D.Crapper McLachlan andP.H.St George-Hyslop
B.C.Hennis, A.C.Havelaar and C.Kluft 781
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Human Molecular Genetics(continued) Volume 1 number 9 December 1992
Dinucleotide repeat polymorphism at the D21S219 locus J.Goto, D.A.Figlewicz, A.Gnirke, N.Khodr, 782which flanks the GARS-AIRS-GART gene A.Krizus and G. A.Rouleau
A common £eoRI polymorphism at the ZFX locus J.Ellison, C.Alles and L.Shapiro 782
Author Index 783
Corrigendum 784
Annual Subject Index 785-789
Annual Author Index 791-794
Cover: Fluorescence in situ hybridization of alpha satellite DNA to human metaphase chromosomes, showing the presence ofcentromeric DNA.Inset: schematic representation of a metaphase chromosome, showing the primary constriction, the kinetochore, and thespindle tubules.
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HumanMolecularGenetics
Executive Editors: \\ Kay E. Davies, Oxford, UK \
Huntington F. Willard,Cleveland,OH, USA'
•
Editor DNAMarkers andPolymorphisms
In recent years the amount of research in human geneticshas grown ever more rapidly. Human Molecular Genetics ',was launched in April 1992 as a new high quality forum tobring together the best original research in this fast growingdiscipline. Papers of excellence are published on any aspectof the subject, including the molecular analysis of lowerorganisms where such studies are relevant to theunderstanding of the human genome. Areas of interest include:
• the analysis of the structure and function of humangenes
• the molecular basis of human inherited disease anddisease predisposition
• chromosome structure and function• developmental genetics• molecular aspects of cancer genetics and genetic therapies• animal models of genetic disease• approaches to gene therapy
- simply the best journal in its field...
Recent and forthcoming papers include:Reconstruction of the 2.4 Mb human DMD-gene by homologous YACrecombination. / T Den Dunnen, P M Grootscholten, / G Dauwerse, A P Walker,
A P Monaco, R Butler, R Anand, A ] Coffey, D R Bentley, H Y Steensma andG ] B van Ommen
Somatic mutations of the APC gene in colorectal tumours: mutation clusterregion in the APC gene. Y Miyoshi, H Nagase, H Ando, A Horii, S Ichii,S Nakatsuru, T Aoh, Y Miki, T Mori and Y Nakamura
Peter Pearson,Baltimore, MD, USA
Editorial Board:
Identification and developmental expression of the Xenopus laevis cysticfibrosis transmembrane conductance regulator gene. S / Tucker, D Tannahilland C F Higgins
Philip Avner, Paris \Andrea Ballabio, HoustonArthur Beaudet, Houston \John Bell, OxfordAdrian Bird, EdinburghStephen Brown, London \
\ Francis Collins, Ann Arbour \\ Peter Goodfellow, London \\ Philip Heiter, Baltimore \i Laurence Kedes, Los Angeles \
Katherine Klinger, Framingham \' Eric'Lander, Cambridge ' * >';
Jacques Mallet, Gif-sur-Yvette \Jean-Louis Mandel, Strasbourg
• Richard Myers, SUM Franciscoi Yusuke Nakamura, Tokyo, Ben Oostra, Rotterdam! David Porteous, Edinburgh
_ \ Annemarie Poustka, HeidelbergSusan Povey, LondonStephen Reeders, New HavenArthur Riggs, DuarteHans-Hilger Ropers, NijmegenLarry Shapiro, San FranciscoGrant Sutherland, AdelaidePaul Tolstoshev, GaithersburgLap-Chee Tsui, TorontoDavid Valle, BaltimoreGert-jan Van Ommen, LeidenStephen Warren, AtlantaDavid Weatherall, OxfordCarol Westbrook, ChicagoRobert Williamson, London
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Cardiovascular Diseases: Genetics,Epidemiology, and PreventionJames J. Nora, Kare Berg and Audrey Hart NoraThe authors provide an authoritative assessment of the muttlfacterialcauses of cardiovascular diseases, emphasizing genetics, epi-demiology, and preventionOxford Monographs on Medical Genetics No 22
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Nucleic Acids ResearchFeatures for 1992
• Extra low subscription rate for newpersonal subscribers
• Sequence supplement databases nowavailable on CD-ROM.
• FREE! As a special offer to launch thenew journal Human MolecularGenetics, all 1992 Nucleic AcidsResearch subscribers will receive anintroductory free subscription
Nucleic Acids Research is the leading rapidpublication journal for papers on physical,chemical and biological aspects of nucleicacids, their constituents and the proteins withwhich they interact Only a fraction of thepapers submitted meet the criteria foracceptance: papers have to be significant,timely, and original. Full length papers covermolecular biology, enzymology, chemistry andgenome structure and mapping. Once accepted,average publication time is just 40 days.Presented in large American Quarto format,papers are typeset direct from disk throughout
Regular features include:For the Record - useful data which is notappropriate as a full paper. The decision topublish is made by an executive editor,ensuring very fast publication - approximatelyfive weeks. Suitable areas for inclusion are:sequence data; NMR assignment data; methods(useful improvements to existing methods).
Sequence Update - recent database entriesavailable on the EMBL File Server
Surveys and Summaries - brief reviews whichbring together material often not found in aformal review article.
NAR Sequence Supplement
In addition to 24 regular issues, yoursubscription to Nucleic Acids Research will, asusual, bring you the annual sequencesupplement In 1992, this will give you detailsof over 12 databases, explaining how they havebeen compiled, how they can be used, and howthey have changed from the previous year.
Databases now available on EMBL CD-ROMFor the first time, most of the databasesdescribed in the supplement are available on asingle CD-ROM. This CD-ROM is producedin collaboration with EMBL and contains the 1following databases:-Cameron The EMBL Nucleotide SequenceDatabaseIkemura Codon usage tabulated from theGenBank genetic sequence dataDe Wachter Compilation of small ribosomalRNA sequencesMcClelland Site specific methylation: effecton DNA modification methyltransferases andrestriction endonucleasesReddy Compilation of small RNA sequencesErdmann Compilation of 5S rRNA genesequencesBrownlee Haemophila B: database of pointmutations iKroeger Compilation of DNA Sequences of ;Escherichia coliRoberts Restriction enzymes and theirisoschizomersSprinzl Compilation of tRNA sequences andsequences of tRNA genesBairoch PROSITE: a dictionary of sites andpatterns in proteinsBairoch The SWISS-PROT protein sequencedatabank
SUBSCRIPTION RATES FOR 1992 (VOLUME 20)24 ISSUES PLUS 1 SUPPLEMENT
Institutions: UK and Europe £625; Elsewhere US$1050Personal: UK and Europe £150; Elsewhere US$250
1st time personal subscribers: UK and Europe £95; Elsewhere US$175
For subscription details or to request a FREE sample copy, please write to:Journals Marketing Department (f), Oxford University Press,
Pinkhill House, Southfield Road, Eynsham, Oxford OX81JJ, UK
Oxford Journals
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