CHARACTERIZATION OF A NEW MEMBER OF THE HUMAN BETA-ADAPTIN GENE FAMILY FROM CHROMOSOME 22Q12, A CANDIDATE MENINGIOMA GENE

被引：87

作者：

PEYRARD, M

FRANSSON, I

XIE, YG

HAN, FY

RUTTLEDGE, MH

SWAHN, S

COLLINS, JE

DUNHAM, I

COLLINS, VP

DUMANSKI, JP

机构：

[1] KAROLINSKA HOSP,DEPT MOLEC MED,CLIN GENET UNIT,S-17176 STOCKHOLM,SWEDEN

[2] KAROLINSKA HOSP,LUDWIG INST CANC RES,STOCKHOLM BRANCH,CLIN UNIT,S-17176 STOCKHOLM,SWEDEN

[3] SANGER CTR,CAMBRIDGE CB10 1RQ,CAMBS,ENGLAND

[4] KAROLINSKA HOSP,DEPT PATHOL,S-17176 STOCKHOLM,SWEDEN

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 08期

关键词：

D O I：

10.1093/hmg/3.8.1393

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：

A 140 kb homozygous deletion from 22q12 in one meningioma directed us towards the cloning and characterization of a new member of the human beta-adaptin gene family (named BAM22). Adaptins are essential for the formation of clathrin coated vesicles in the course of intracellular transport of receptor-ligand complexes. The BAM22 gene is totally inactivated in the tumor with homozygous deletion. Northern blot analysis of 70 sporadic meningiomas showed specific loss of expression in 8 tumors, suggesting inactivation of BAM22. Based on this, we propose BAM22 as a second chromosome 22 locus important in meningioma development, after the neurofibromatosis type 2 gene.

引用

页码：1393 / 1399

页数：7

共 33 条

[1] MULTIFOCAL MENINGIOMAS IN A PATIENT WITH A CONSTITUTIONAL RING CHROMOSOME-22
ARINAMI, T
KONDO, I
HAMAGUCHI, H
NAKAJIMA, S
[J]. JOURNAL OF MEDICAL GENETICS, 1986, 23 (02) : 178 - 180
[2] Ausubel F. M., 1993, CURRENT PROTOCOLS MO
[3] EXON AMPLIFICATION - A STRATEGY TO ISOLATE MAMMALIAN GENES BASED ON RNA SPLICING
BUCKLER, AJ
CHANG, DD
GRAW, SL
BROOK, JD
HABER, DA
SHARP, PA
HOUSMAN, DE
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) : 4005 - 4009
[4] FUNCTIONAL INDEPENDENCE OF THE EPIDERMAL GROWTH-FACTOR RECEPTOR FROM A DOMAIN REQUIRED FOR LIGAND-INDUCED INTERNALIZATION AND CALCIUM REGULATION
CHEN, WS
LAZAR, CS
LUND, KA
WELSH, JB
CHANG, CP
WALTON, GM
DER, CJ
WILEY, HS
GILL, GN
ROSENFELD, MG
[J]. CELL, 1989, 59 (01) : 33 - 43
[5] DEPREZ RHL, 1991, AM J HUM GENET, V48, P783
[6] ISOLATION OF ANONYMOUS, POLYMORPHIC DNA FRAGMENTS FROM HUMAN-CHROMOSOME 22Q12-QTER
DUMANSKI, JP
VANKESSEL, AHMG
RUTTLEDGE, M
WLADIS, A
SUGAWA, N
COLLINS, VP
NORDENSKJOLD, M
[J]. HUMAN GENETICS, 1990, 84 (03) : 219 - 222
[7] DUMANSKI JP, 1990, CANCER RES, V50, P5863
[8] DELETION MAPPING OF A LOCUS ON HUMAN CHROMOSOME-22 INVOLVED IN THE ONCOGENESIS OF MENINGIOMA
DUMANSKI, JP
CARLBOM, E
COLLINS, VP
NORDENSKJOLD, M
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) : 9275 - 9279
[9] A MAP OF 22 LOCI ON HUMAN CHROMOSOME-22
DUMANSKI, JP
CARLBOM, E
COLLINS, VP
NORDENSKJOLD, M
EMANUEL, BS
BUDARF, ML
MCDERMID, HE
WOLFF, R
OCONNELL, P
WHITE, R
LALOUEL, JM
LEPPERT, M
[J]. GENOMICS, 1991, 11 (03) : 709 - 719
[10] AMPLIFIED AND REARRANGED EPIDERMAL GROWTH-FACTOR RECEPTOR GENES IN HUMAN GLIOBLASTOMAS REVEAL DELETIONS OF SEQUENCES ENCODING PORTIONS OF THE N-TERMINAL AND OR C-TERMINAL TAILS
EKSTRAND, AJ
SUGAWA, N
JAMES, CD
COLLINS, VP
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (10) : 4309 - 4313

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