Fig. 4 | Genetics in Medicine

Fig. 4

From: Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Fig. 4The alternative text for this image may have been generated using AI.

Functional analysis of variant p.Asn590Ser in vitro. (a) When permeabilized by 0.1% TritonX-100, wild type (WT) presented normal distribution, while p.Asn590Ser showed expression in both membrane and cytoplasm. (b) Real-time quantitative polymerase chain reaction (RT-qPCR) indicated that the messenger RNA (mRNA) expression level of affected lymphocyte cells decreased compared with unaffected. (c) After being treated by cycloheximide, mRNA expressing level of ABCC1 was increased in affected lymphocytes. (d) SNARF-1 efflux assay in affected and unaffected lymphocytes. SNARF-1 was exported more slowly in affected lymphocytes than unaffected at 2 hours. By 6 hours, the two groups were nearly unloaded with the dye.

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