Bulk transcriptome analysis of Myt1l mutant mouse cortices across development.

We examined the effect of Myt1l deficiency in the cortices of mice during developement. Homozygous Myt1l deficiency resulted in postnatal lethality, and mutant mice presented gene expression changes associated with developmental delays and resembled changes observed in autism spectrum disorder patients. Bulk RNA sequencing of Myt1l (+/+; WT), Myt1l (+/-; HET), and Myt1l (-/-; HOM) mouse cortices at E18.5, P0, and of Myt1l (+/+; WT), Myt1l (+/-; HET) at P22, and adult (3-month-old).本研究探究了小鼠大脑皮层发育过程中Myt1l基因缺失的影响。纯合型Myt1l基因缺失会导致小鼠出生后致死，突变小鼠出现与发育迟缓相关的基因表达改变，且其基因表达谱变化与自闭症谱系障碍（Autism Spectrum Disorder）患者体内的变化相似。本研究对不同基因型小鼠的大脑皮层样本开展批量RNA测序（Bulk RNA sequencing）：在胚胎第18.5天（E18.5）、出生后0天（P0）阶段，分别采集Myt1l野生型（Myt1l +/+; WT）、杂合型（Myt1l +/-; HET）与纯合型（Myt1l -/-; HOM）小鼠的皮层样本；在出生后22天（P22）及成年（3月龄）阶段，则仅采集野生型与杂合型小鼠的皮层样本。