Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
复制标题
与 Hermansky-Pudlak 综合征基因 HPS-1 同源的部分假基因的表征；
DOI：
10.1007/s004390051053
复制
发表时间：
2000
期刊：
影响因子：
5.3
通讯作者：
Gahl,WA
中科院分区：
文献类型：
--
作者：
Huizing,M;Anikster,Y;Gahl,WA
TheHPS-1gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. TheHPS-1gene has been mapped to chromosome 10q23.1–23.3 and encodes a 79-kDa protein of unknown function with no homology to any known protein. A sequence database search has revealed that a portion of clone HS1119A7 shows high sequence similarity toHPS-1cDNA. By performing sequence alignments and PCR amplification of cDNA from several human tissues, we have shown that part of this clone consists of an unprocessed partialHPS-1pseudogene located on chromosome 22q12.2–12.3. The pseudogene contains several intactHPS-1exons and shows 95% sequence homology to theHPS-1cDNA. Exon 6 of the pseudogene has 100% sequence homology to exon 6 ofHPS-1itself. In the pseudogene, this exon is surrounded by portions of both its normal flanking introns. These data provide the first characterization of anHPS-1pseudogene, calledHPS1-ψ1. During amplification of exon 6 of theHPS-1gDNA for mutation identification, the pseudogene might also be amplified, leading to a false positive for mutation. In addition, amplification of specific parts of theHPS-1cDNA (e.g., exons 2–5) for mutation detection might lead to false positives for mutations, if the cDNA is contaminated with gDNA. This calls for caution when employing these screening approaches.
