Transcription of the human and rodent SPAM1 / PH-20 genes initiates within an ancient endogenous retrovirus.

BACKGROUND:Sperm adhesion molecule 1 is the major mammalian testicular hyaluronidase and is expressed at high levels in sperm cells. protein is important for penetration of the cumulus cell layer surrounding the ovum, and is also involved in zona pellucida binding and sperm intracellular signalling. A previous study had identified duanyu1842M1 as one of the many human genes that initiate within a transposable element. RESULTS:Examination of the human, mouse and rat duanyu1842M1 loci revealed that transcripts initiate within the pol gene of an endogenous retrovirus (ERV) element. This is highly unusual, as all previously identified ERV-initiated cellular gene transcripts initiate within the viral long terminal repeat promoter. The duanyu1842M1 locus therefore represents an example of the evolution of a promoter from protein-coding sequence. We have identified novel alternative promoter and splicing variants of human and murine We show that all transcript variants are expressed primarily in the testis and are predicted to encode identical proteins. CONCLUSION:The testis-specific promoters of the human and mouse duanyu1842M1 genes are derived from sequence that was originally part of an ERV pol gene. This represents the first known example of an ERV-derived promoter acting in a gender-specific manner.

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