What is the Origin of PROGINS Allele?

The term "PROGINS" is an acronym derived from the PROGesterone receptor INSertion. Its identification came from molecular genetics studies focused on identifying polymorphisms in steroid hormone receptor genes that could explain inter-individual variability in response to progesterone and susceptibility to reproductive disorders.

What is the Mechanism of PROGINS Allele?

The insertion of the Alu sequence within intron G of the PGR gene is thought to influence the splicing or stability of the resulting messenger RNA (mRNA) or the final protein structure. This structural alteration may lead to a progesterone receptor that is less responsive to progesterone binding or exhibits altered nuclear translocation. The functional consequence is a subtle change in the cellular signaling pathway mediated by progesterone, potentially leading to dysregulated cell proliferation and tissue remodeling in progesterone-sensitive organs.

PROGINS Allele

Meaning

The PROGINS Allele is a specific polymorphic variant, or genetic allele, found within the human progesterone receptor (PGR) gene. This variant is characterized by a specific insertion of an Alu sequence in the gene’s intron G, leading to a progesterone receptor that may exhibit altered transcriptional activity or stability compared to the common allele. Clinically, the presence of the PROGINS allele is associated with varying risks and prognoses for certain hormone-sensitive conditions, such as endometriosis and breast cancer.