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Blood, 15 August 2005, Vol. 106, No. 4, pp. 1466-1472.
Prepublished online as a Blood First Edition Paper on April 26, 2005; DOI 10.1182/blood-2005-03-0948.
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Submitted March 8, 2005
Accepted April 15, 2005
A newly discovered human alpha globin gene
Sung-Ho Goh, Y T Lee, Natarajan V Bhanu, Margaret C Cam, Richard Desper, Brian M Martin, Ramy Moharram, Robert B Gherman, and Jeffery L Miller*
Molecular Medicine Branch, NIDDK, NIH, Bethesda, Maryland, USA
Microarray Core Facility, NIDDK, NIH, Bethesda, Maryland, USA
NCBI, NIH, Bethesda, Maryland, USA
Laboratory of Neurotoxicology, NIMH, NIH, Bethesda, Maryland, USA
National Naval Hospital, Bethesda, Maryland, USA
* Corresponding author; email: jm7f{at}nih.gov.
A previously undefined transcript with significant homology to the pseudo-alpha2 region of the alpha globin locus on human chromosome 16 was detected as part of an effort to better define the transcriptional profiles of human reticulocytes. Cloning and sequencing of that transcript (GenBank: AY698022; named mu globin) revealed an insert with a 423 nucleotide open reading frame. BLASTP and ClustalW and phylogenetic analyses of the predicted protein demonstrated high level of homology with the avian alpha-D globin. In addition, the heme- and globin-binding amino acids of mu globin and avian alpha-D globin are largely conserved. Using quantitative real-time PCR, mu globin was detected at a level of approximately 0.1% that measured for alpha globin in erythroid tissues. Erythroid-specific expression was detected by Northern analysis, and maximal expression during the erythroblast terminal differentiation was also detected. Despite this highly regulated pattern of mu globin gene transcription, mu globin protein was not detected by mass spectrometry. These results suggest the human genome encodes a previously unrecognized globin member of the avian alpha-D family that is transcribed in a highly regulated pattern in erythroid cells.

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