Ried K, Rao E, Schiebel K, Rappold G A
Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany.
Hum Mol Genet. 1998 Oct;7(11):1771-8. doi: 10.1093/hmg/7.11.1771.
We have isolated a novel gene, ASMTL (acetylserotonin methytransferase-like ), in the pseudoautosomal region (PAR1) on the human sex chromosomes. ASMTL represents a unique fusion product of two different full-length genes of different evolutionary origin and function. One part is homologous to the bacterial maf/orfE genes. The other part shows significant homology to the entire open reading frame of the previously described pseudoautosomal gene ASMT, encoding the enzyme catalysing the last step in the synthesis of melatonin. We have also detected the identity of one exon (1A) of ASMT to exon 3 in yet another pseudoautosomal gene, XE7. The data presented suggest that exon duplication and exon shuffling as well as gene fusion may represent common characteristics in the pseudoautosomal region.
我们在人类性染色体的假常染色体区域（PAR1）中分离出了一个新基因，ASMTL（类乙酰血清素甲基转移酶）。ASMTL是两个具有不同进化起源和功能的不同全长基因的独特融合产物。其中一部分与细菌maf/orfE基因同源。另一部分与先前描述的假常染色体基因ASMT的整个开放阅读框具有显著同源性，ASMT编码催化褪黑素合成最后一步的酶。我们还检测到ASMT的一个外显子（1A）与另一个假常染色体基因XE7的外显子3相同。所呈现的数据表明，外显子重复、外显子重排以及基因融合可能是假常染色体区域的共同特征。
