parentoforiginspecific

Parentoforiginspecific, also described as parent-of-origin-specific gene expression, refers to the phenomenon in which the expression of an allele depends on whether it was inherited from the mother or the father. In many vertebrates, a subset of genes is imprinted such that only one parental copy is active while the other is silenced through epigenetic mechanisms.

Mechanisms include DNA methylation at imprinting control regions, histone modifications, and regulatory noncoding RNAs. These marks are established during gametogenesis and maintained after fertilization, producing tissue- and development-specific expression patterns. In humans, for example, IGF2 is typically paternally expressed while the neighboring H19 gene is maternally expressed.

Biological significance and disorders: Genomic imprinting influences growth, neurodevelopment, and metabolism. Disruptions can cause imprinting disorders such as Prader-Willi syndrome and Angelman syndrome, arising from defects in imprinting on chromosome 15. Other imprinted-region disorders include Beckwith-Wiedemann syndrome and Silver-Russell syndrome linked to 11p15. Imprinting can also be affected by uniparental disomy or epigenetic errors, with consequences for phenotype.

Research and implications: Studying parentoforiginspecific expression informs developmental biology and epigenetics, with relevance to assisted reproduction, cloning, and allele-specific expression analyses. Detection relies on assays of allele-specific expression and DNA methylation profiling, often using bisulfite sequencing or methylation arrays to map imprinting control regions across tissues.