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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

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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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Subscriptions

An annual subscription to Human Molecular Genetics comprises 9 issues, withan Annual Author and Subject Index. Subscriptions are entered on a calendaryear basis only. Prices inclusive of postage by surface mail or, for subscribersin the USA and Canada, by air freight or, in Japan, Australia, New Zealandand India, by Air Speeded Post. Airmail rates are available on request.

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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

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