The sheep genome contributes to localization of control elements in a human gene with complex regulatory mechanisms

Nathalie Mouchel; Scott J. Tebbutt; Fiona C. Broackes-Carter; Virender Sahota; Tina Summerfield; David J. Gregory; Ann Harris

doi:10.1006/geno.2001.6603

The sheep genome contributes to localization of control elements in a human gene with complex regulatory mechanisms

Nathalie Mouchel, Scott J. Tebbutt, Fiona C. Broackes-Carter, Virender Sahota, Tina Summerfield, David J. Gregory, Ann Harris^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

Genes that show complex tissue-specific and temporal control by regulatory elements located outside their promoters present a considerable challenge to identify the sequences involved. The rapid accumulation of genomic sequence information for a number of species has enabled a comparative phylogenetic approach to find important regulatory elements. For some genes, which show a similar pattern of expression in humans and rodents, genomic sequence information for these two species may be sufficient. Others, such as the cystic fibrosis transmembrane conductance regulator (CFTR) gene, show significant divergence in expression patterns between mouse and human, necessitating phylogenetic approaches involving additional species. The ovine CFTR gene has a temporal and spatial expression pattern that is very similar to that of human CFTR. Comparative genomic sequence analysis of ovine and human CFTR identified high levels of homology between the core elements in several potential regulatory elements defined as DNase I hypersensitive sites in human CFTR. These data provide a case for the power of an artiodactyl genome to contribute to the understanding of human genetic disease.

Original language	English (US)
Pages (from-to)	9-13
Number of pages	5
Journal	Genomics
Volume	76
Issue number	1-3
DOIs	https://doi.org/10.1006/geno.2001.6603
State	Published - Jul 15 2001

Funding

We thank John Peden and Nicki Gray for bioinformatics help; Eric Green (NHGRI, Bethesda, MD, USA) for providing the mouse Cftr genomic sequence before publication; Diana Hill (University of Otago, Dunedin, New Zealand) for continued support; and Rebecca Rowntree, Deborah Harrison, David Smith, Danielle Moulin, Ann Wheeler (Oxford University, Oxford, UK), and Michael Lakeman (University of Otago, Dunedin, New Zealand) for assistance. This work was supported by AFLM; the Wellcome Trust; the CF Trust, UK; the Medical Research Council, UK; the Marsden Fund (NZ); the New Zealand Cystic Fibrosis Association Shares in Life Fund; and the Otago Research Fund.

ASJC Scopus subject areas

Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1006/geno.2001.6603

Cite this

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abstract = "Genes that show complex tissue-specific and temporal control by regulatory elements located outside their promoters present a considerable challenge to identify the sequences involved. The rapid accumulation of genomic sequence information for a number of species has enabled a comparative phylogenetic approach to find important regulatory elements. For some genes, which show a similar pattern of expression in humans and rodents, genomic sequence information for these two species may be sufficient. Others, such as the cystic fibrosis transmembrane conductance regulator (CFTR) gene, show significant divergence in expression patterns between mouse and human, necessitating phylogenetic approaches involving additional species. The ovine CFTR gene has a temporal and spatial expression pattern that is very similar to that of human CFTR. Comparative genomic sequence analysis of ovine and human CFTR identified high levels of homology between the core elements in several potential regulatory elements defined as DNase I hypersensitive sites in human CFTR. These data provide a case for the power of an artiodactyl genome to contribute to the understanding of human genetic disease.",

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The sheep genome contributes to localization of control elements in a human gene with complex regulatory mechanisms

Abstract

Funding

ASJC Scopus subject areas

UN SDGs

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