共 28 条
The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter
被引:41
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Fimiani, G
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

Monfregola, J
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

Sanzari, E
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

De Felice, N
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

Salerno, MC
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

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D'Urso, M
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy

Ursini, MV
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机构: CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy
机构:
[1] CNR, IIGB, Int Inst Genet & Biophys, I-80125 Naples, Italy
[2] Univ Naples Federico II, Dept Pediat, Naples, Italy
来源:
关键词:
STAT5;
genes;
genomic structure;
redundant genes;
idiopathic short stature;
phylogenetic trees;
D O I:
10.1016/S0378-1119(02)00421-3
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
STAT5A and STAT5B genes belong to the signal transducer and activators of transcription (STAT) family of transcription factors. They show a high degree of sequence homology at levels of mRNA, however, in spite of their supposed redundancy, each STAT5 has distinct biological functions mainly related to the immune system, hematopoiesis, growth and mammary development. We isolated and sequenced both STAT5A and STAT5B encoding human genes finding that they are segmented in 20 and 19 exons, respectively, of comparable size except for the extreme 5' exons and the 3 exons. Two CpG islands, 23.2% CpG for STAT5A and 30.2% for STAT5B, are present at the 5' of both STAT5 genes covering the 5' untranslated regions. More surprisingly, the two genes share two major regions of almost identical sequence which diverge between the different species indicating an intra-species specific mechanism of preservation. Furthermore, we identified two alternative 5' exons in STAT5B genes and thus two alternative promoters. The second putative promoter is not embedded in a CpG island and it shows a tissue specific pattern of expression. Finally, the STAT5B gene was assessed as a candidate gene in a human disorder related to growth failure. (C) 2002 Published by Elsevier Science B.V.
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页码:311 / 318
页数:8
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