Abstract:
:CTCFL, a paralog of CTCF, also known as BORIS (brother of regulator of imprinted sites), is a testis-expressed gene whose function is largely unknown. Its product is a cancer testis antigen (CTA), and it is often expressed in tumor cells and also seen in two benign human vascular malformations, juvenile angiofibromas and infantile hemangiomas. To understand the function of Ctcfl, we created tetracycline-inducible Ctcfl transgenic mice. We show that Ctcfl expression during embryogenesis results in growth retardation, eye malformations, multiorgan pathologies, vascular defects, and neonatal death. This phenotype resembles prior mouse models that perturb the transforming growth factor β (TGFB) pathway. Embryonic stem (ES) cells with the Ctcfl transgene reproduce the phenotype in ES cell-tetraploid chimeras. Transcriptome sequencing of the Ctcfl ES cells revealed 14 genes deregulated by Ctcfl expression. Bioinformatic analysis revealed the TGFB pathway as most affected by embryonic Ctcfl expression. Understanding the consequence of Ctcfl expression in nontesticular cells and elucidating downstream targets of Ctcfl could explain the role of its product as a CTA and its involvement in two, if not more, human vascular malformations.
journal_name
Mol Cell Bioljournal_title
Molecular and cellular biologyauthors
Sati L,Zeiss C,Yekkala K,Demir R,McGrath Jdoi
10.1128/MCB.00381-15subject
Has Abstractpub_date
2015-10-01 00:00:00pages
3436-45issue
19eissn
0270-7306issn
1098-5549pii
MCB.00381-15journal_volume
35pub_type
杂志文章abstract::Numerous nonribosomal trans-acting factors involved in pre-rRNA processing have been characterized, but few of them are specifically required for the last cytoplasmic steps of 18S rRNA maturation. We have recently demonstrated that Rrp10p/Rio1p is such a factor. By BLAST analysis, we identified the product of a previo...
journal_title:Molecular and cellular biology
pub_type: 杂志文章
doi:10.1128/mcb.23.6.2083-2095.2003
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abstract::Alkylpurine-DNA-N-glycosylase (APNG) null mice have been generated by homologous recombination in embryonic stem cells. The null status of the animals was confirmed at the mRNA level by reverse transcription-PCR and by the inability of cell extracts of tissues from the knockout (ko) animals to release 3-methyladenine ...
journal_title:Molecular and cellular biology
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1984-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1128/mcb.18.2.936
更新日期:1998-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1128/mcb.19.1.155
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journal_title:Molecular and cellular biology
pub_type: 杂志文章
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journal_title:Molecular and cellular biology
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pub_type: 杂志文章
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journal_title:Molecular and cellular biology
pub_type: 杂志文章
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更新日期:2004-03-01 00:00:00
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journal_title:Molecular and cellular biology
pub_type: 杂志文章
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journal_title:Molecular and cellular biology
pub_type: 杂志文章
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更新日期:2003-04-01 00:00:00
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更新日期:2005-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1128/mcb.4.12.2925
更新日期:1984-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:1989-04-01 00:00:00