# Splice Variant of Spalax Heparanase Skipping Exon 12

**Authors:** Nicola J. Nasser, Eviatar Nevo, Aaron Avivi

PMC · DOI: 10.3390/genes15081039 · Genes · 2024-08-07

## TL;DR

A new splice variant of heparanase in Spalax, lacking enzymatic activity, is found in hypoxia-exposed kidney tissue and may contribute to its unique adaptations.

## Contribution

A novel splice variant of Spalax heparanase, formed by skipping exon 12, is identified and shown to be non-functional.

## Key findings

- A splice variant of Spalax heparanase was identified from a hypoxia-exposed kidney sample.
- The variant skips exon 12 but maintains the translation frame.
- The variant lacks enzymatic activity, suggesting a non-functional role in heparan sulfate degradation.

## Abstract

The subterranean blind mole rat, Spalax, has evolved significantly over 47 million years to thrive in its underground habitat. A key enzyme in this adaptation is heparanase, which degrades heparan sulfate (HS) in the extracellular matrix (ECM), facilitating angiogenesis and releasing growth factors for endothelial cells. Spalax heparanase has various splice variants influencing tumor growth and metastasis differently. We report a novel splice variant from a hypoxia-exposed kidney sample resulting from exon 12 skipping. This variant maintains the translation frame but lacks enzymatic activity, offering insights into Spalax’s unique adaptations.

## Linked entities

- **Genes:** LOC105148257 (uncharacterized protein PF11_0213-like) [NCBI Gene 105148257]
- **Chemicals:** heparan sulfate (PubChem CID 137699201)
- **Species:** Spalax (taxon 10062)

## Full-text entities

- **Genes:** HPSE (heparanase) [NCBI Gene 10855] {aka HPA, HPA1, HPR1, HPSE1, HSE1}
- **Diseases:** tumor (MESH:D009369), metastasis (MESH:D009362), hypoxia (MESH:D000860)
- **Chemicals:** HS (MESH:D006497)

## Full text

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## Figures

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## References

55 references — full list in the complete paper: https://tomesphere.com/paper/PMC11353719/full.md

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Source: https://tomesphere.com/paper/PMC11353719