Liu L, Zhao C, Heng H H, Ganz T
Department of Medicine and Will Rogers Institute for Pulmonary Research, University of California at Los Angeles School of Medicine, 90095, USA.
Genomics. 1997 Aug 1;43(3):316-20. doi: 10.1006/geno.1997.4801.
We cloned a novel human beta-defensin gene and determined its full-length cDNA sequence. The entire gene spanned more than 7 kb and included a large 6962-bp intron. The 362-bp cDNA encoded a prepropeptide that corresponded precisely to the recently identified human beta-defensin HBD-1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. By two-color fluorescence in situ hybridization on both metaphase chromosome and released chromatin fiber, HBD-1 gene (DEFB1 in HUGO/GDB nomenclature) mapped to chromosomal region 8p23.1-p23.2 in close proximity (within 100-150 kb) to the gene for the human neutrophil alpha-defensin HNP-1 (DEFA1). Thus, despite a complete lack of DNA sequence similarity and despite differences in their disulfide-pairing pattern, the alpha- and beta-families appear to have evolved from a common premammalian defensin gene.
我们克隆了一个新的人类β-防御素基因，并确定了其全长cDNA序列。整个基因跨度超过7kb，包含一个6962bp的大内含子。362bp的cDNA编码一个前原肽，它与最近鉴定出的人类β-防御素HBD-1精确对应，HBD-1是一种抗菌肽，与上皮表面对微生物定植的抗性有关。通过对中期染色体和释放的染色质纤维进行双色荧光原位杂交，HBD-1基因（在HUGO/GDB命名法中为DEFB1）定位于染色体区域8p23.1-p23.2，与人类中性粒细胞α-防御素HNP-1（DEFA1）的基因紧密相邻（在100-150kb范围内）。因此，尽管完全缺乏DNA序列相似性，且其二硫键配对模式存在差异，但α-和β-家族似乎是从一个共同的前哺乳动物防御素基因进化而来的。
