Abstract
Achaete-scute like-2 ( ASCL2 ) gene is a maternally expressed gene that encodes a lineage-specific transcription factor that is essential for neurectoderm and trophectoderm development and is implicated in pre-natal and post-natal development in mammals. Using comparative genomics, various in silico sequence analyses were performed to characterize the putative imprinted ASCL2 gene. Additionally, tissue expression analysis between Angus, White Fulani, and N’Dama cattle breeds was conducted, as well as a molecular cloning of the gene transcript from bovine placenta. Four site-specific motifs were identified in the basic helix-loop-helix (bHLH) domain that are highly conserved in cattle, humans and mice. Pairwise comparisons of the coding sequence of cattle, human and mice revealed a dN/dS rate ratio that was significantly less than 1 (Z test). Two synonymous single nucleotide polymorphisms (SNPs) were found within 1 kb of the cloned complementary DNA (cDNA) in cattle. Bovine ASCL2 messenger RNA (mRNA) was relatively expressed in eight adult tissues with the ASCL2 gene differentially expressed in the muscle and skin tissues of the three cattle breeds. The conservation of these site-specific motifs for phosphorylation across the three species suggests a post-translational modification of the gene function and activity of the mammalian ASCL2 gene. Keywords : Cattle, imprinting, motifs, phosphorylation
Highlights
Imprinted genes are important in the regulation of foetal growth, development, function of the placenta and postnatal behaviour in mammals (Reik & Dean, 2003)
Achaete-scute like-2 (ASCL2) is a member of the basic helix-loop-helix family of transcription factors that are involved in chromosomal segregation and nervous system development in mammals (Rebhan et al, 1997)
The predicted promoter CpG islands (CGI) identified in cattle (-1377... +1876) was found to be conserved in the promoter CGI of human (-490...-67, +157...+2718) and mouse (+352...+1885, +2211...+2293) ASCL2 gene orthologs
Summary
Imprinted genes are important in the regulation of foetal growth, development, function of the placenta and postnatal behaviour in mammals (Reik & Dean, 2003). The achaete-scute like-2 (ASCL2/Mash2) gene is the vertebrate homolog of the achaete-scute genes in Drosophila, where it is involved in neuronal determination (Johnson et al, 1990) In mammals, it has been identified as a critical gene for normal placenta development and successful pregnancies (Arnold et al, 2006). ASCL2 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are involved in chromosomal segregation and nervous system development in mammals (Rebhan et al, 1997). This gene is involved in important biological processes in most mammalian species, research has focused on its human and mouse orthologs. The objectives of this study were to perform in silico analysis of the genomic messenger RNA (mRNA), and protein sequences
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