ISOLATION OF A GENE ENCODING AN INTEGRAL MEMBRANE-PROTEIN FROM THE VICINITY OF A BALANCED TRANSLOCATION BREAKPOINT ASSOCIATED WITH DIGEORGE-SYNDROME

被引:55
作者
WADEY, R
DAW, S
TAYLOR, C
ATIF, U
KAMATH, S
HALFORD, S
ODONNELL, H
WILSON, D
GOODSHIP, J
BURN, J
SCAMBLER, P
机构
[1] INST CHILD HLTH,MOLEC MED UNIT,LONDON WC1N 1EH,ENGLAND
[2] UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NEWCASTLE TYNE NE2 4AA,TYNE & WEAR,ENGLAND
基金
英国医学研究理事会;
关键词
D O I
10.1093/hmg/4.6.1027
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease, It is not known how many genes contribute to this phenotype, Previous studies have shown that a balanced translocation disrupts sequences within the shortest region of deletion overlap for DiGeorge syndrome, A P1 clone was isolated which spans this breakpoint and used to isolate a cDNA encoding a transmembrane protein expressed in a wide variety of tissues, This gene (called IDD) is not disrupted by the translocation, but maps within 10 kb of the breakpoint, Mutation analysis of five affected cases with no previously identified chromosome 22 deletion was negative; but a potential protein polymorphism was discovered, No deletions or rearrangements were detected in these patients following analysis with markers closely flanking the breakpoint, data which emphasize that large (i.e. over 1 Mb) interstitial deletions are the rule in DiGeorge syndrome, The proximity of IDD to the balanced translocation breakpoint and its position within the shortest region of deletion overlap indicate that this gene may have a role, along with other genes, in the CATCH22 haploinsufficiency syndromes.
引用
收藏
页码:1027 / 1033
页数:7
相关论文
共 46 条
[1]   DIAGNOSTIC SINGLE-STRAND CONFORMATIONAL POLYMORPHISM, (SSCP) - A SIMPLIFIED NONRADIOISOTOPIC METHOD AS APPLIED TO A TAY-SACHS-B1 VARIANT [J].
AINSWORTH, PJ ;
SURH, LC ;
COULTERMACKIE, MB .
NUCLEIC ACIDS RESEARCH, 1991, 19 (02) :405-406
[2]   BASIC LOCAL ALIGNMENT SEARCH TOOL [J].
ALTSCHUL, SF ;
GISH, W ;
MILLER, W ;
MYERS, EW ;
LIPMAN, DJ .
JOURNAL OF MOLECULAR BIOLOGY, 1990, 215 (03) :403-410
[3]  
ATODA H, 1991, J BIOL CHEM, V266, P14903
[4]   DIGEORGE SYNDROME AND 22Q11 REARRANGEMENTS [J].
AUGUSSEAU, S ;
JOUK, S ;
JALBERT, P ;
PRIEUR, M .
HUMAN GENETICS, 1986, 74 (02) :206-206
[5]   GENOMIC STRUCTURE, CHROMOSOMAL LOCATION, AND EVOLUTION OF THE MOUSE HOX-8 GENE [J].
BELL, JR ;
NOVEEN, A ;
LIU, YH ;
MA, L ;
DOBIAS, S ;
KUNDU, R ;
LUO, W ;
XIA, YR ;
LUSIS, AJ ;
SNEAD, ML ;
MAXSON, R .
GENOMICS, 1993, 16 (01) :123-131
[6]  
BOCKMAN DE, 1987, AM J ANAT, V180, P332
[7]   CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11 [J].
BURN, J ;
TAKAO, A ;
WILSON, D ;
CROSS, I ;
MOMMA, K ;
WADEY, R ;
SCAMBLER, P ;
GOODSHIP, J .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (10) :822-824
[8]   LOCALIZATION OF 27 DNA MARKERS TO THE REGION OF HUMAN-CHROMOSOME 22Q11-PTER DELETED IN PATIENTS WITH THE DIGEORGE SYNDROME AND DUPLICATED IN THE DER22 SYNDROME [J].
CAREY, AH ;
ROACH, S ;
WILLIAMSON, R ;
DUMANSKI, JP ;
NORDENSKJOLD, M ;
COLLINS, VP ;
ROULEAU, G ;
BLIN, N ;
JALBERT, P ;
SCAMBLER, PJ .
GENOMICS, 1990, 7 (03) :299-306
[9]   ILLEGITIMATE TRANSCRIPTION - TRANSCRIPTION OF ANY GENE IN ANY CELL TYPE [J].
CHELLY, J ;
CONCORDET, JP ;
KAPLAN, JC ;
KAHN, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2617-2621
[10]   A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME [J].
DELACHAPELLE, A ;
HERVA, R ;
KOIVISTO, M ;
AULA, P .
HUMAN GENETICS, 1981, 57 (03) :253-256