Genomic organization and chromosomal localization of the Itm2a gene
Genomic organization and chromosomal localization of the Itm2a gene
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DOI：
10.1007/s003359900942
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发表时间：
1999-01-01
期刊：
影响因子：
2.5
通讯作者：
Merregaert, J
中科院分区：
文献类型：
--
作者：
Pittois, K;Wauters, J;Merregaert, J
Itm 2A是一种新的II型整合膜蛋白，参与成骨和软骨分化。Itm 2a cDNA最初是通过消减杂交和差异筛选从出生前小鼠下颌髁突器官培养物的cDNA文库中分离的。Itm 2a基因是从BALB/c小鼠肝脏基因组文库中分离得到的。总共测序了9.4kb的基因，其中2649 bp是5'侧翼序列。Itm 2a基因包含6个外显子和5个内含子。剪接位点符合GT/AG规则。5'侧翼区含有推测的启动子序列，缺乏常见的TATAA和CCAAT序列，但含有各种转录因子的共有结合位点。已知这些转录因子中的几种在软骨或骨特异性基因的转录调节中起作用（例如Cbfa 1、Cart-1、MHox、HES-1和CIIS 1）。通过荧光原位杂交（FISH）分析将Itm 2a定位于小鼠染色体位置XA 2-XA 3。人类同源物ITM 2A定位于染色体位置Xq13.3-Xq21.2。
Itm2A is a novel type II integral membrane protein that is involved in osteo- and chondrogenic differentiation. Itm2a cDNA was originally isolated from a cDNA library of organ cultures from prenatal mouse mandibular condyles, by subtractive hybridization and differential screening. The Itm2a gene was isolated from a BALB/c liver genomic library. In total, 9.4 kb of the gene were sequenced, of which 2649 bp are 5' flanking sequences. The Itm2a gene contains six exons and five introns. The splice sites conform to the GT/AG rule. The 5' flanking region, which contains the presumed promoter sequence, lacks the common TATAA and CCAAT sequences, but contains consensus binding sites for various transcription factors. Several of these transcription factors are known to play a role in transcriptional regulation of cartilage- or bone-specific genes (e.g. Cbfa1, Cart-1, MHox, HES-1, and CIIS1). Itm2a was mapped to mouse chromosome position XA2-XA3 by fluorescent in situ hybridization (FISH) analysis. The human homolog, ITM2A, was mapped to chromosome position Xq13.3-Xq21.2.