Banyer J L, Goldwurm S, Cullen L, van der Griend B, Zournazi A, Smit D J, Powell L W, Jazwinska E C
Queensland Institute of Medical Research, Bancroft Centre, Brisbane, Australia.
Mamm Genome. 1998 Mar;9(3):235-9. doi: 10.1007/s003359900732.
Paralogous regions are duplicated segments of chromosomal DNA that have been acquired during the evolution of the genome. Subsequent divergent evolution of the genes within paralogous regions can lead to the formation of gene families. Here, we report the identification of a region on Chromosome (Chr) 6 at 6p21.3 that is paralogous with the Spinal Muscular Atrophy (SMA) gene region on Chr 5 at 5q13.1. Partial characterization of this region identified nine sequences all of which are highly homologous to DNA sequences of the SMA gene region at 5q13.1. These sequences include four beta-glucuronidase sequences, two retrotransposon sequences, a novel cDNA, a Sequence Tagged Site (STS), and one that is homologous to exon 9 of the Neuronal Apoptosis Inhibitor Protein (NAIP) gene. The 6p21.3 paralogous SMA region may contain genes that are related to those in the SMA region at 5q13.1; however, a direct association of this region with SMA is unlikely given that no linkage of SMA with Chr 6 has been reported.
旁系同源区域是在基因组进化过程中获得的染色体DNA重复片段。旁系同源区域内基因的后续趋异进化可导致基因家族的形成。在此，我们报告在6号染色体（Chr）6p21.3处鉴定出一个与5号染色体（Chr）5q13.1处的脊髓性肌萎缩症（SMA）基因区域旁系同源的区域。对该区域的部分特征分析鉴定出9个序列，所有这些序列都与5q13.1处SMA基因区域的DNA序列高度同源。这些序列包括4个β-葡萄糖醛酸酶序列、2个逆转座子序列、1个新的cDNA、1个序列标签位点（STS），以及1个与神经元凋亡抑制蛋白（NAIP）基因第9外显子同源的序列。6p21.3旁系同源SMA区域可能包含与5q13.1处SMA区域相关的基因；然而，鉴于尚未报道SMA与6号染色体存在连锁关系，该区域与SMA不太可能存在直接关联。
