HORMAD1 mutation disrupts synaptonemal complex formation and chromosomal segregation in fertilized eggs. Mus musculus

Hormad1 encodes a protein that contains a HORMA domain, and unlike Mad2, Hormad1 expression is germ cell specific. We discovered that both male and female are infertile, and HORMAD1 has important function in synaptonemal complex formation, sex chromosome inactivation during spermatogenesis and chromosome segregation in meiosis. Overall design: RNA isolated from wild-type and Hormad1-/- 2-week-old testes was used for performing Illumina BeadChip MouseWG-6 2.0 arrays. Three replicates per genotype were performed.

Hormad1基因编码一种含有HORMA结构域（HORMA domain）的蛋白质。与Mad2不同，Hormad1的表达具有生殖细胞特异性。本研究发现，Hormad1基因敲除的雌雄个体均不育，且HORMAD1在联会复合体（synaptonemal complex）组装、精子发生过程中的性染色体失活以及减数分裂时期的染色体分离过程中发挥重要功能。实验整体设计：本研究提取野生型及2周龄Hormad1基因敲除（Hormad1-/-）小鼠睾丸组织的总RNA，采用Illumina BeadChip小鼠全基因组表达芯片MouseWG-6 2.0进行转录组芯片检测，每个基因型设置3次生物学重复。