Sequence, genomic structure and tissue expression of Human BRI3, a member of the BRI gene family.
Sequence, genomic structure and tissue expression of Human BRI3, a member of the BRI gene family.
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BRI 基因家族成员人类 BRI3 的序列、基因组结构和组织表达。
DOI：
10.1016/s0378-1119(01)00374-2
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发表时间：
2001
期刊：
影响因子：
3.5
通讯作者：
Frangione,B
中科院分区：
文献类型：
--
作者：
Vidal,R;Calero,M;Révész,T;Plant,G;Ghiso,J;Frangione,B
bri3基因是BRI基因家族的一员，由至少三个不同的基因（BRI1-3）组成。先前的研究确定了人类和小鼠bri1和bri2基因的cDNA序列和结构，我们最近报道了位于13号染色体上的bri2异构体突变与人类痴呆有关。在本工作中，我们确定了人类bri3基因的完整cDNA序列和基因组结构。bri3编码267个氨基酸的多肽，Mr为30 KDa， pI为8.47。氨基酸序列与人类BRI2的同源性为43.7%，与人类BRI1的同源性为38.3%，氨基酸同源性比例最高的部分集中在分子的c端一半。在Northern blots中，BRI3cDNA只杂交了大约2.1千碱基的一条信息，这主要存在于人脑中。bri3基因定位在2号染色体上，由6个长度超过20kb的外显子组成。通过EST数据库的同源性检索，获得了BRI基因的Caenorhabditisbriggsae同源性，表明BRI基因属于一个高度保守的基因家族。这些旨在表征BRI基因家族成员的研究，可能为了解其正常功能以及bri2突变如何导致类似阿尔茨海默病的神经变性和痴呆提供有价值的线索。
The BRI3gene is a member of the BRI gene family, made up of at least three different genes (BRI1–3). Previous studies established the cDNA sequence and structure of the human and mouse BRI1and BRI2genes and we recently reported that mutations in the BRI2isoform, located on chromosome 13, are associated with dementia in humans. In the present work, we determine the complete cDNA sequence and genomic organization of the human BRI3gene. BRI3codes for a polypeptide of 267 amino acids, with a Mr of 30 KDa and a pI of 8.47. The amino acid sequence is 43.7% identical to the sequence of the human BRI2, and 38.3% identical to that of human BRI1, with the highest percentage of amino acid identity being concentrated on the C-terminal half of the molecules. In Northern blots, BRI3cDNA hybridizes only one message of approximately 2.1 kilobases, which is predominantly present in the human brain. The BRI3gene is localized on chromosome 2 and consists of six exons spanning more than 20 kb. Homology search of EST data banks retrieved a Caenorhabditisbriggsae homolog of BRI, indicating that the BRI gene belongs to a strongly conserved gene family. These studies, aimed at characterizing the members of the BRI gene family, may provide valuable clues to the understanding of their normal function and how mutations in BRI2can cause neurodegeneration and dementia similar to Alzheimer's disease.
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DOI：
10.1016/0006-291x(89)92437-6
发表时间：
1989-02-28
影响因子：
3.1
作者：
LAFAUCI, G;LAHIRI, DK;ROBAKIS, NK
通讯作者：
ROBAKIS, NK
DOI：
10.1073/pnas.080076097
发表时间：
2000-04-25
影响因子：
11.1
作者：
Vidal, R;Révész, T;Frangione, B
通讯作者：
Frangione, B
影响因子：
2.5
作者：
Pittois, K;Wauters, J;Merregaert, J
通讯作者：
Merregaert, J
人类淀粉样前体蛋白（APP）基因的调节区促进转基因小鼠中枢神经系统中神经元特异性基因的表达。
DOI：
10.1002/j.1460-2075.1991.tb07949.x
发表时间：
1991
期刊：
The EMBO Journal
影响因子：
--
作者：
Dana O. Wirak;Richard M. Bayney;Catherine A.kundel;Alice S. Lee;George Scangos;Bruce D. Trapp;A. Unterbeck
通讯作者：
A. Unterbeck
克隆小鼠α-珠蛋白基因和β-珠蛋白基因的比较：间插序列位置和基因外同源性的保守性。
DOI：
10.1073/pnas.75.12.6187
发表时间：
1978
影响因子：
11.1
作者：
A. Leder;H. Miller;D. Hamer;J. Seidman;B. Norman;M. Sullivan;P. Leder
通讯作者：
P. Leder