Defensins are members of a large diverse family of cationic antimicrobial peptides that share a signature pattern consisting of six conserved cysteine residues. Defensins have a wide variety of functions and their disruption has been implicated in various human diseases. Here we report the characterization of DEFB119-DEFB123, five genes in the human beta-defensin cluster locus on chromosome 20q11.1. The genomic structures of DEFB121 and DEFB122 were determined in silico. Sequences of the five macaque orthologs were obtained and expression patterns of the genes were analyzed in humans and macaque by semiquantitative reverse transcription polymerase chain reaction. Expression was restricted to the male reproductive tract. The genes in this cluster are differentially regulated by androgens. Evolutionary analyses suggest that this cluster originated by a series of duplication events and by positive selection. The evolutionary forces driving the proliferation and diversification of these defensins may be related to reproductive specialization and/or the host-parasite coevolutionary process.

中文翻译：

---

灵长类动物β-防御素基因簇的鉴定，表征和进化。

防御素是多种多样的阳离子抗菌肽家族的成员，它们共享由六个保守的半胱氨酸残基组成的特征码。防御素具有多种功能，其破坏与多种人类疾病有关。在这里，我们报告了DEFB119-DEFB123的特征，DEFB119-DEFB123是20q11.1号染色体上人类β-防御素簇基因座中的五个基因。通过计算机确定了DEFB121和DEFB122的基因组结构。获得了五个猕猴直系同源序列，并通过半定量逆转录聚合酶链反应分析了该基因在人和猕猴中的表达模式。表达仅限于男性生殖道。该簇中的基因受雄激素的差异调节。进化分析表明，这一簇源于一系列重复事件和正选择。驱动这些防御素的增殖和多样化的进化力可能与生殖专一化和/或宿主-寄生虫协同进化过程有关。