CHROMOSOMAL LOCALIZATION OF 7 PAX GENES AND CLONING OF A NOVEL FAMILY MEMBER, PAX-9

被引：202

作者：

STAPLETON, P ^{[1
]}

WEITH, A ^{[1
]}

URBANEK, P ^{[1
]}

KOZMIK, Z ^{[1
]}

BUSSLINGER, M ^{[1
]}

机构：

[1] RES INST MOLEC,PATHOL DR BOHR GASSE 7,A-1030 VIENNA,AUSTRIA

来源：

NATURE GENETICS | 1993年 / 3卷 / 04期

关键词：

D O I：

10.1038/ng0493-292

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a polymerase chain reaction fragment for PAX-4. PAX-9 is a novel family member which is closely related in its paired domain to PAX-1. The chromosomal location of all cloned PAX genes was determined by analysis of somatic cell hybrids and (except PAX-4) by fluorescence in situ hybridization to metaphase chromosomes. PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci.

引用

页码：292 / 298

页数：7

共 44 条

[1] PAX-5 ENCODES THE TRANSCRIPTION FACTOR BSAP AND IS EXPRESSED IN LYMPHOCYTES-B, THE DEVELOPING CNS, AND ADULT TESTIS [J].

ADAMS, B ;

DORFLER, P ;

AGUZZI, A ;

KOZMIK, Z ;

URBANEK, P ;

MAURERFOGY, I ;

BUSSLINGER, M .

GENES & DEVELOPMENT, 1992, 6 (09) :1589-1607

[2] ALAGILLE SYNDROME AND DELETION OF 20P [J].

ANAD, F ;

BURN, J ;

MATTHEWS, D ;

CROSS, I ;

DAVISON, BCC ;

MUELLER, R ;

SANDS, M ;

LILLINGTON, DM ;

EASTHAM, E .

JOURNAL OF MEDICAL GENETICS, 1990, 27 (12) :729-737

[3] AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME [J].

BALDWIN, CT ;

HOTH, CF ;

AMOS, JA ;

DASILVA, EO ;

MILUNSKY, A .

NATURE, 1992, 355 (6361) :637-638

[4] UNDULATED, A MUTATION AFFECTING THE DEVELOPMENT OF THE MOUSE SKELETON, HAS A POINT MUTATION IN THE PAIRED BOX OF PAX-1 [J].

BALLING, R ;

DEUTSCH, U ;

GRUSS, P .

CELL, 1988, 55 (03) :531-535

[5] A NOVEL B-CELL LINEAGE-SPECIFIC TRANSCRIPTION FACTOR PRESENT AT EARLY BUT NOT LATE STAGES OF DIFFERENTIATION [J].

BARBERIS, A ;

WIDENHORN, K ;

VITELLI, L ;

BUSSLINGER, M .

GENES & DEVELOPMENT, 1990, 4 (05) :849-859

[6] CONSERVATION OF A LARGE PROTEIN DOMAIN IN THE SEGMENTATION GENE PAIRED AND IN FUNCTIONALLY RELATED GENES OF DROSOPHILA [J].

BOPP, D ;

BURRI, M ;

BAUMGARTNER, S ;

FRIGERIO, G ;

NOLL, M .

CELL, 1986, 47 (06) :1033-1040

[7] ISOLATION OF 2 TISSUE-SPECIFIC DROSOPHILA PAIRED BOX GENES, POX-MESO AND POX-NEURO [J].

BOPP, D ;

JAMET, E ;

BAUMGARTNER, S ;

BURRI, M ;

NOLL, M .

EMBO JOURNAL, 1989, 8 (11) :3447-3457

[8] CONSERVATION OF THE PAIRED DOMAIN IN METAZOANS AND ITS STRUCTURE IN 3 ISOLATED HUMAN GENES [J].

BURRI, M ;

TROMVOUKIS, Y ;

BOPP, D ;

FRIGERIO, G ;

NOLL, M .

EMBO JOURNAL, 1989, 8 (04) :1183-1190

[9] THE MOLECULAR-BASIS OF THE UNDULATED PAX-1 MUTATION [J].

CHALEPAKIS, G ;

FRITSCH, R ;

FICKENSCHER, H ;

DEUTSCH, U ;

GOULDING, M ;

GRUSS, P .

CELL, 1991, 66 (05) :873-884

[10] LOSS OF ALLELES FROM THE DISTAL SHORT ARM OF CHROMOSOME-1 OCCURS LATE IN MELANOMA TUMOR PROGRESSION [J].

DRACOPOLI, NC ;

HARNETT, P ;

BALE, SJ ;

STANGER, BZ ;

TUCKER, MA ;

HOUSMAN, DE ;

KEFFORD, RF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (12) :4614-4618

← 1 2 3 4 5 →