GENOMIC ANALYSIS OF A NF1-RELATED PSEUDOGENE ON HUMAN-CHROMOSOME-21

被引：20

作者：

SUZUKI, H ^{[1
]}

OZAWA, N ^{[1
]}

TAGA, C ^{[1
]}

KANO, T ^{[1
]}

HATTORI, M ^{[1
]}

SAKAKI, Y ^{[1
]}

机构：

[1] UNIV TOKYO,INST MED SCI,MINATO KU,TOKYO 108,JAPAN

来源：

GENE | 1994年 / 147卷 / 02期

关键词：

NUCLEOTIDE SEQUENCE; HEREDITARY DISEASES; EXON; INTRON; YEAST ARTIFICIAL CHROMOSOME; YAC; POLYMERASE CHAIN REACTION;

D O I：

10.1016/0378-1119(94)90081-7

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A neurofibromatosis type-1 (NF1)-related locus on human chromosome 21 has been characterized. A detailed genomic mapping performed by yeast artificial chromosome (YAC) dot-hybridization revealed that the NF1-related locus is close to the sequence-tagged site (STS), D21S329 (G52E12), which is located on the proximal region of 21q11.2. Sequence analysis showed that this locus seemed to be conserved to the NF1 gene only in several partial regions. Two exon-like segments corresponding to exons 8 and 9 of NF1 were found, in addition to two previously found fragments corresponding to exons 7 and 11. Other exon-like segments were not found in the region so far sequenced. Comparing these homologous segments with the NF1 cDNA, a 2-bp deletion appeared in exon 8 of the locus, resulting in the existence of stop codons in all reading frames. In addition, there were no amplified fragments derived from the related locus by reverse transcription-PCR. Thus, our results suggest that the NF1-related locus on chromosome 21 is a nonprocessed pseudogene.

引用

页码：277 / 280

页数：4

共 9 条

[1] CONTINUUM OF OVERLAPPING CLONES SPANNING THE ENTIRE HUMAN CHROMOSOME-21Q [J].

CHUMAKOV, I ;

RIGAULT, P ;

GUILLOU, S ;

OUGEN, P ;

BILLAUT, A ;

GUASCONI, G ;

GERVY, P ;

LEGALL, I ;

SOULARUE, P ;

GRINAS, L ;

BOUGUELERET, L ;

BELLANNECHANTELOT, C ;

LACROIX, B ;

BARILLOT, E ;

GESNOUIN, P ;

POOK, S ;

VAYSSEIX, G ;

FRELAT, G ;

SCHMITZ, A ;

SAMBUCY, JL ;

BOSCH, A ;

ESTIVILL, X ;

WEISSENBACH, J ;

VIGNAL, A ;

RIETHMAN, H ;

COX, D ;

PATTERSON, D ;

GARDINER, K ;

HATTORI, M ;

SAKAKI, Y ;

ICHIKAWA, H ;

OHKI, M ;

LEPASLIER, D ;

HEILIG, R ;

ANTONARAKIS, S ;

COHEN, D .

NATURE, 1992, 359 (6394) :380-387

[2] DIRECT CLONING OF HUMAN TRANSCRIPTS WITH HNRNA FROM HYBRID CELL-LINES [J].

CORBO, L ;

MALEY, JA ;

NELSON, DL ;

CASKEY, CT .

SCIENCE, 1990, 249 (4969) :652-655

[3] THE NEUROFIBROMATOSIS TYPE-1 GENE AND ITS PROTEIN PRODUCT, NEUROFIBROMIN [J].

GUTMANN, DH ;

COLLINS, FS .

NEURON, 1993, 10 (03) :335-343

[4] NF1-RELATED LOCUS ON CHROMOSOME-15 [J].

LEGIUS, E ;

MARCHUK, DA ;

HALL, BK ;

ANDERSEN, LB ;

WALLACE, MR ;

COLLINS, FS ;

GLOVER, TW .

GENOMICS, 1992, 13 (04) :1316-1318

[5] A YEAST ARTIFICIAL CHROMOSOME CONTIG ENCOMPASSING THE TYPE-1 NEUROFIBROMATOSIS GENE [J].

MARCHUK, DA ;

TAVAKKOL, R ;

WALLACE, MR ;

BROWNSTEIN, BH ;

TAILLONMILLER, P ;

FONG, CT ;

LEGIUS, E ;

ANDERSEN, LB ;

GLOVER, TW ;

COLLINS, FS .

GENOMICS, 1992, 13 (03) :672-680

[6] AN EXON-TRAPPING SYSTEM WITH A NEWLY CONSTRUCTED TRAPPING VECTOR PEXT2 - ITS APPLICATION TO THE PROXIMAL REGION OF THE HUMAN CHROMOSOME-21 LONG ARM [J].

OZAWA, N ;

KANO, T ;

TAGA, C ;

HATTORI, M ;

SAKAKI, Y ;

SUZUKI, H .

FEBS LETTERS, 1993, 325 (03) :303-308

[7] DELETIONS AND A TRANSLOCATION INTERRUPT A CLONED GENE AT THE NEUROFIBROMATOSIS TYPE-1 LOCUS [J].

VISKOCHIL, D ;

BUCHBERG, AM ;

XU, GF ;

CAWTHON, RM ;

STEVENS, J ;

WOLFF, RK ;

CULVER, M ;

CAREY, JC ;

COPELAND, NG ;

JENKINS, NA ;

WHITE, R ;

OCONNELL, P .

CELL, 1990, 62 (01) :187-192

[8] THE NEUROFIBROMATOSIS TYPE-1 GENE [J].

VISKOCHIL, D ;

WHITE, R ;

CAWTHON, R .

ANNUAL REVIEW OF NEUROSCIENCE, 1993, 16 :183-205

[9] TYPE-1 NEUROFIBROMATOSIS GENE - IDENTIFICATION OF A LARGE TRANSCRIPT DISRUPTED IN 3 NF1 PATIENTS [J].

WALLACE, MR ;

MARCHUK, DA ;

ANDERSEN, LB ;

LETCHER, R ;

ODEH, HM ;

SAULINO, AM ;

FOUNTAIN, JW ;

BRERETON, A ;

NICHOLSON, J ;

MITCHELL, AL ;

BROWNSTEIN, BH ;

COLLINS, FS .

SCIENCE, 1990, 249 (4965) :181-186

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