Restriction digests of the clone give the following sizes (kb): NotI--2.9, 0.9; PvuI--2.85, 1.1; PvuII--2.6, 1.35; KpnI--3.8; SacI--3.8. The sequence is encoded in interval 1A1B, proximal to the pseudoautosomal region. The gene spans at least 23 kb and contains a minimum of 5 exons. The cDNA detects 5 genomic HindIII fragments, and there is no HindIII site in the cDNA. The insert contains the complete coding sequence for a polypeptide of 263 amino acids, 12 nucleotides 5' untranslated sequence and 56 nucleotides 3' untranslated followed by 23 adenosines. The probe detects an abundant 1.0 kb mRNA and a less abundant 10 kb mRNA in XY male but not XX female fibroblasts and lymphoblasts. The 10 kb transcript appears to be incompletely spliced. pDP1278 (ATCC 65108, 65109) and pDP1284 (ATCC 65110, 65111) each detect a larger number of restriction fragments in Southern blots than expected from either locus alone. There are probably pseudogenes. |
