Molecular cloning and characterization of the protein 4.1O gene, a novel member of the protein 4.1 family with focal expression in ovary

详细信息    查看全文

• 作者：X. Ni ; C. Ji ; G. Cao ; H. Cheng ; L. Guo ; S. Gu ; K. Ying ; R. C. Zhao and Y. Mao
• 关键词：Key words&#8194 ; Protein 4.1O ; MTC panel PCR ; Chromosome 9q21– ; 9q22 ; Ovary ; Tumor
• 刊名：Journal of Human Genetics
• 出版年：2003
• 出版时间：February 2003
• 年：2003
• 卷：48
• 期：2
• 页码：101-106
• 全文大小：669 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

 Protein 4.1 is an important structural protein that is expressed in erythroid and in a variety of nonerythroid tissues. In mammalian erythrocytes, it plays a key role in regulating the physical properties of mechanical stability and deformability in membranes by stabilizing the spectrin–actin interaction. The protein 4.1 family mainly comprises 4.1R, 4.1G (general type), 4.1B (brain type), and 4.1N (neuron type). We identified a novel human 4.1 (4.1O) gene that is 2312 bp in length and encodes a protein of 553 amino acid residues. The protein shared homology with mouse protein 4.1B (identity 38%, similarity 55%) with a FERM domain. The expression pattern of the human 4.1O gene in 16 tissues showed that there was a transcript only in ovary, whereas in the remaining 15 tissues, specific bands of the transcript could not be detected. In eight human fetal tissues, the specific bands of the transcript could be detected in skeletal muscle, with lower levels detected in thymus and brain. The 4.1O gene consists of 14 exons and 13 introns and was mapped to Chromosome 9q21–9q22 by bioinformatics analysis.