GPC3--GENE STRUCTURE AND ROLE IN OVERGROWTH SYNDROMES
GPC3--GENE STRUCTURE AND ROLE IN OVERGROWTH SYNDROMES
批准号:
2010627
负责人:
Stephen M Beverley
金额:
$18.95万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
1997
资助国家:
美国
项目状态:
已结题
起止时间:
1997-02-01 至 1998-01-31
中文摘要
描述:(改编自调查人员的摘要)
Simpson-Golabi-Behmel综合征(或SGBs)是一种巨人症/过度生长综合征
这使受影响的个人倾向于--想必是由于
组织肥大--与某些胚胎肿瘤的发展有关。这
这一建议是基于一种特定糖蛋白的损伤,
Glypical3(GPC3),引起该综合征。这是世界上第一个蛋白多糖
哪些损伤被证明会导致遗传病。
研究人员已经证明,GPC3在同一组织中高度表达
SGBS患者在没有胚胎组织的情况下倾向于过度生长,以及
已经获得证据表明它与胰岛素样生长因子2相互作用
(IGF2)。工作假设是在组织中,在时间和地点
当表达GPC3时,GPC3与IGF2的相互作用会影响
增长率。他们的目标是进一步分析GPC3基因的结构
和蛋白质,以及它们参与生长控制。拟议中的工作
结合对蛋白质及其相互作用的生物化学研究
IGF2,以及包括破坏GPC3基因和
为小鼠提供额外的转基因拷贝。这项工作还应该提供
SGB对表型的鉴别诊断试验
类似的Beckwith-Weidemann综合征,应该有助于分析
组织肥大和过度生长综合征的性质,并可提供
关于GPC3是否是某些肿瘤的抑制因子和可能的
为其他人做记号。
英文摘要
DESCRIPTION: (adapted from the investigator's abstract)
Simpson-Golabi-Behmel Syndrome (or SGBS) is a gigantism/overgrowth syndrome
that predisposes affected individuals -- presumably as a consequence of
tissue hypertrophy -- to the development of certain embryonal tumors. This
proposal is based on the finding that lesions in a particular glycoprotein,
glypican 3 (GPC3), cause the syndrome. This is the first proteoglycan in
which lesions are shown to result in genetic disease.
The investigators have shown that GPC3 is highly expressed in the same
embryonic tissues that tend to overgrow in its absence in SGBS patients, and
have obtained evidence that it interacts with insulin-like growth factor 2
(IGF2). The working hypothesis is that in tissues where, and at the times
when, GPC3 is expressed, an interaction of GPC3 with IGF2 influences the
rate of growth. They aim to analyze further the structure of the GPC3 gene
and protein, and their involvement in growth control. The proposed work
uses a combination of biochemical studies of the protein and its interaction
with IGF2, and genetic tests that include disruption of the GPC3 gene and
provision of an extra transgenic copy in mice. The work should also provide
diagnostic tests for the discrimination of SGBS for the phenotypically
similar Beckwith-Weidemann Syndrome, should aid in the analysis of the
nature of tissue hypertrophy and overgrowth syndromes, and can provide
information about whether GPC3 is a suppressor of some tumors and a possible
marker for others.
期刊论文(2)
专著(0)
科研奖励(0)
会议论文
Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene.
分析人磷脂酰肌醇蛋白聚糖 3 (GPC3) 基因 5 启动子和 3 末端周围的外显子/内含子结构和 400 kb 基因组序列。
DOI:
10.1006/geno.1997.4916
发表时间:
1997
期刊:
Genomics
影响因子:
4.4
作者:
[Huber,R, Crisponi,L, Mazzarella,R, Chen,CN, Su,Y, Shizuya,H, Chen,EY, Cao,A, Pilia,G]
通讯作者:
Pilia,G
Leishmania RNA viruses and pathogenesis
-
批准号:10159855
-
项目类别:
-
资助金额:$66.65万
-
财政年份:2018
-
负责人:Stephen M Beverley
-
依托单位:
Leishmania RNA viruses and pathogenesis
-
批准号:10407495
-
项目类别:
-
资助金额:$66.65万
-
财政年份:2018
-
负责人:Stephen M Beverley
-
依托单位:
Leishmania RNA virus (LRV) infectivity and host responses
-
批准号:8664035
-
项目类别:
-
资助金额:$49.25万
-
财政年份:2013
-
负责人:Stephen M Beverley
-
依托单位:
Glycosylation Mutants of Leishmania
-
批准号:7628105
-
项目类别:
-
资助金额:$74.73万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
Glycosylation Mutants of Leishmania
-
批准号:8072087
-
项目类别:
-
资助金额:$74.82万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:6688268
-
项目类别:
-
资助金额:$66.51万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
Glycosylation Mutants of Leishmania
-
批准号:7840523
-
项目类别:
-
资助金额:$75.89万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:6983422
-
项目类别:
-
资助金额:$68.76万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
Glycosylation Mutants of Leishmania
-
批准号:8279164
-
项目类别:
-
资助金额:$74.48万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
Glycosylation Mutants of Leishmania
-
批准号:7372374
-
项目类别:
-
资助金额:$73.97万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:7151926
-
项目类别:
-
资助金额:$68.68万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:9178051
-
项目类别:
-
资助金额:$59.4万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:6829694
-
项目类别:
-
资助金额:$68.45万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
GLYCOSYLATION MUTANTS OF LEISHMANIA
-
批准号:6579518
-
项目类别:
-
资助金额:$66.06万
-
财政年份:1992
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA USING DNA TRANSFECTION
-
批准号:3144515
-
项目类别:
-
资助金额:$27.01万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA USING DNA TRANSFECTION
-
批准号:3144517
-
项目类别:
-
资助金额:$29.81万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA
-
批准号:2882159
-
项目类别:
-
资助金额:$37.59万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA
-
批准号:6689995
-
项目类别:
-
资助金额:$51.5万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA
-
批准号:8417711
-
项目类别:
-
资助金额:$67.69万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位:
MOLECULAR GENETICS OF LEISHMANIA USING DNA TRANSFECTION
-
批准号:3144514
-
项目类别:
-
资助金额:$24.89万
-
财政年份:1990
-
负责人:Stephen M Beverley
-
依托单位: