Identification and characterization of bovine regulator of telomere length elongation helicase gene RTEL: molecular cloning, expression distribution, splice variants and DNA methylation profileReport as inadecuate




Identification and characterization of bovine regulator of telomere length elongation helicase gene RTEL: molecular cloning, expression distribution, splice variants and DNA methylation profile - Download this document for free, or read online. Document in PDF available to download.

BMC Molecular Biology

, 8:18

First Online: 06 March 2007Received: 28 September 2006Accepted: 06 March 2007

Abstract

BackgroundThe genetic basis of telomere length heterogeneity among mammalian species is still not well understood. Recently, a gene named regulator of telomere length elongation helicase RTEL was identified and predicted to be an essential participant in species-specific telomere length regulation in two murine species. To obtain broader insights into its structure and biological functions and to ascertain whether RTEL is also a candidate gene in the regulation of telomere length diversity in other mammalian species, data from other mammals may be helpful.

ResultsHere we report the cDNA cloning, genomic structure, chromosomal location, alternative splicing pattern, expression distribution and DNA methylation profile of the bovine homolog of RTEL. The longest transcript of bovine RTEL is 4440 nt, encompassing 24.8 kb of genomic sequence that was mapped to chromosome 13q2.2. It encodes a conserved helicase-like protein containing seven characterized helicase motifs in the first 750 aa and a PIP box in the C-terminus. Four splice variants were identified within the transcripts in both the coding and 5-untranslated regions; Western blot revealed that the most abundant splice variant SV-1 was translated to a truncated isoform of RTEL. The different 5-UTRs imply alternative transcription start sites in the promoter; Bovine RTEL was transcribed at the blastocyst stage, and expression levels were highest in adult testis, liver and ovary. DNA methylation analysis of tissues that differed significantly in expression level indicated that relatively low DNA methylation is associated with higher expression.

ConclusionIn this study, we have identified and characterized a bovine RTEL homolog and obtained basic information about it, including gene structure, expression distribution, splice variants and profile of DNA methylation around two putative transcription start sites. These data may be helpful for further comparative and functional analysis of RTEL in mammals.

List of abbreviationsRTELRegulator of Telomere Length elongation helicase

UTRUntranslated region

PCNAProliferating Cell Nuclear Antigen

RH mappingRadiation Hybrid mapping

FISHFluorescence In Situ Hybridization

SVSplice Variant

TSSTranscription Start Site

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2199-8-18 contains supplementary material, which is available to authorized users.

Zhuo Du, DingSheng Zhao contributed equally to this work.

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Author: Zhuo Du - DingSheng Zhao - YongHui Zhao - ShaoHua Wang - Yu Gao - Ning Li

Source: https://link.springer.com/



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