Question 1

What is the Meaning of IGF2/H19 Locus?

Accepted Answer

The $IGF2/H19$ Locus is a critical, tightly regulated genomic region situated on human chromosome $11p15.5$ that serves as a classic, well-studied example of genomic imprinting, meticulously controlling the expression of two key genes: Insulin-like Growth Factor 2 ($IGF2$) and $H19$. $IGF2$ is a potent, essential fetal growth factor, while $H19$ is a non-coding RNA that functions critically as a tumor suppressor and a key negative regulator of $IGF2$ expression. The coordinated, parent-of-origin-specific expression of these two genes is non-negotiable for normal mammalian growth and proper development. Dysregulation of this locus, through various epigenetic errors, is strongly implicated in several human overgrowth disorders and cancer predisposition syndromes.

Question 2

What is the Origin of IGF2/H19 Locus?

Accepted Answer

This term is fundamental to the field of epigenetics and molecular genetics, stemming directly from the initial discovery of imprinted genes in mammals and the subsequent mapping of their genomic locations. The word "Locus" is the specific physical location on the chromosome, and the genes $IGF2$ and $H19$ are named for their specific biological function and historical discovery context, respectively. The meticulous study of this locus provided crucial, foundational insights into how epigenetic modifications, rather than just the underlying DNA sequence, profoundly control complex gene expression patterns.

Question 3

What is the Mechanism of IGF2/H19 Locus?

Accepted Answer

The precise expression of $IGF2$ and $H19$ is controlled by a shared, master Imprinting Control Region (ICR) located upstream of the $H19$ gene. This regulatory mechanism relies entirely on differential DNA methylation patterns: the paternal allele is typically methylated at the ICR, which effectively silences the $H19$ gene and simultaneously permits the expression of the $IGF2$ gene. Conversely, the maternal allele remains unmethylated, which allows for robust $H19$ expression and, in turn, actively represses $IGF2$ expression. Disturbances in this specific methylation pattern, such as the loss of imprinting, lead to the abnormal biallelic expression of $IGF2$, which is a major molecular driver of the overgrowth phenotypes seen in associated clinical conditions.

IGF2/H19 Locus

Meaning

Origin

Mechanism

How Do Epigenetic Changes Influence Endocrine Function in ART-Conceived Individuals?

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