Therefore, our model will be a valuable tool for further understanding the developmental and molecular attributes of this rare disease, along with providing novel insights into the role of genome maintenance proteins in somatic DNA repair and fertility.īloom Syndrome (BSyn, OMIM #210900) is a rare monogenic autosomal recessive disorder with symptoms ranging from below average height and weight and lesions on exposed skin areas, to reduced fertility and shortened life expectancy most often brought on by heightened proneness to cancer development. Unlike fanc genes and rad51, however, blm appears to affect its function independent of tp53. Moreover, similarly to other factors involved in DNA repair, some functions of zebrafish Blm bear additional importance in germ line development, and consequently in sex differentiation. We show that zebrafish blm mutants recapitulate major hallmarks of the human disease, such as shortened lifespan and reduced fertility. In humans, this syndrome is characterized by short stature, skin rashes, reduced fertility, increased risk of carcinogenesis, and shortened life expectancy brought on by genomic instability. Our aim was to create and characterize a zebrafish ( Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. Aside from being conserved from bacteria to vertebrates, their importance is also reflected in the fact that in humans impaired function of multiple RecQ helicase orthologs are known to cause severe sets of problems, including Bloom, Werner, or Rothmund-Thomson syndromes. RecQ helicases-also known as the “guardians of the genome”-play crucial roles in genome integrity maintenance through their involvement in various DNA metabolic pathways.
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