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Chromosome 12q24; Thyroid hormone receptor-associated protein 2 (THRAP2); Transcriptional coregulator BAC, bacterial artificial chromosome; bp, base pair; cDNA, complementary to RNA; EST, expressed sequence tag; kb, kilobase(s); kDa, kilodalton(s); RT-PCR, reverse transcription and polymerase chain reaction; RACE, rapid amplification of cDNA ends; UTR, untranslated region(s); TRAP, thyroid hormone receptor associated protein(s)
Abstract:
Characterization of a balanced t(2;12)(q37;q24) translocation in a patient with suspicion of Noonan syndrome revealed that the chromosome 12 breakpoint lies in the vicinity of a novel human gene, thyroid hormone receptor-associated protein 2 (THRAP2). We therefore characterized this gene and its mouse counterpart in more detail. Human and mouse THRAP2/Thrap2 span a genomic region of about 310 and >170 kilobases (kb), and both contain 31 exons. Corresponding transcripts are approximately 9.5 kb long. Their open reading frames code for proteins of 2210 and 2203 amino acids, which are 93% identical. By northern blot analysis, human and mouse THRAP2/Thrap2 genes showed ubiquitous expression. Transcripts were most abundant in human skeletal muscle and in mouse heart. THRAP2 protein is 56% identical to human TRAP240, which belongs to the thyroid hormone receptor associated protein (TRAP) complex and is evolutionary conserved up to yeast. This complex is involved in transcriptional regulation and is believed to serve as adapting interface between regulatory proteins bound to specific DNA sequences and RNA polymerase II.
