Abstract
The α-globin major regulatory element ( αMRE) positioned far upstream of the gene cluster is essential for the proper expression of the α -globin genes. Analysis of the human and mouse α-globin Upstream Flanking Regions ( αUFR) has identified three nonglobin genes in the order Distl-MPG-Proxl-α-globin. Further characterization of the whole region indicates that the aMRE and several other erythroid DNase HSSs are associated with the transcription unit of the Proxl gene. In this paper we describe the characterization and localization of the mouse Proxl cDNA and compare it with its human homolog, the -14 gene, and another human cDNA sequence named hProxl. Our results show a strong conservation between the -14 gene and the mouse Proxl gene with the exception of the first exon of the mProxl gene. This exon is absent in the -14 cDNA but is present and conserved in the human Proxl cDNA, indicating that the human -14/hProxl gene is alternatively spliced or transcribed. The mProxl gene encodes a predicted protein of 491 amino acids (aa) whose function is not known. In the 5’UTR of this gene, a 35-bp repeat (VNTR) is positioned, which is highly polymorphic among laboratory inbred mice (Mus domesticus). Our results strongly suggest that the mProxl VNTR arose during the divergence of M. spretus and M. domesticus. Besides its use in evolutionary studies and positional cloning, the mProxl VNTR might be invaluable for monitoring the expression of a transgenic mProxl gene. The cloning of the mProxl gene will be helpful to analyze its possible role on α-glo-bin as well on MPG expression in the mouse.
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Kielman, M.F., Barradeau, S., Smits, R. et al. Characterization and localization of the mproxl gene directly upstream of the mouse α-globin gene cluster: identification of a polymorphic direct repeat in the 5’UTR. Mammalian Genome 7, 877–880 (1996). https://doi.org/10.1007/s003359900260
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DOI: https://doi.org/10.1007/s003359900260