Sandford R, Sgotto B, Burn T, Brenner S
Department of Medicine, Addenbrookes Hospital, Cambridge, England, United Kingdom.
Genomics. 1996 Nov 15;38(1):84-6. doi: 10.1006/geno.1996.0596.
The tuberous sclerosis 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes are adjacent on human chromosome 16p13.3 and form part of a conserved synteny group with mouse chromosome 17. We have determined that the PKD1 gene is evolutionarily conserved, single copy, and linked to TSC2 in the Fugu genome. A short cosmid contig has been identified containing both genes based on hybridization, exon trapping, and random sequence data. In addition sequences homologous to the somatostatin type V receptor (SSTR5) were identified 5' to PKD1, defining a larger syntenic region, as this gene has also been mapped to human chromosome 16p13.3. As in mammalian genomes, the Fugu TSC2 and PKD1 genes are adjacent in a tail-to-tail orientation.
结节性硬化症2（TSC2）基因和多囊肾病1（PKD1）基因在人类染色体16p13.3上相邻，并与小鼠染色体17构成保守同线性群的一部分。我们已经确定PKD1基因在进化上是保守的、单拷贝的，并且在河豚基因组中与TSC2基因相连。基于杂交、外显子捕获和随机序列数据，已鉴定出一个包含这两个基因的短粘粒重叠群。此外，在PKD1基因5'端鉴定到了与生长抑素V型受体（SSTR5）同源的序列，这定义了一个更大的同线性区域，因为该基因也已定位到人类染色体16p13.3上。与哺乳动物基因组一样，河豚的TSC2基因和PKD1基因以尾对尾的方向相邻。
