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Related Experiment Videos

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD.

D C Bittel1, N Kibiryeva, Z Talebizadeh

  • 1Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.

Journal of Medical Genetics
|August 16, 2003
PubMed
Summary

Prader-Willi syndrome (PWS) gene expression differs between deletion and UPD subtypes. Increased expression of maternally expressed genes (UBE3A, ATP10C) in UPD PWS may explain phenotypic variations.

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EVALUATION OF PLASMA SUBSTANCE P AND BETA-ENDORPHIN LEVELS IN CHILDREN WITH PRADER-WILLI SYNDROME.

The Journal of rare disorders·2016

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomic Imprinting

Background:

  • Prader-Willi syndrome (PWS) is the leading genetic cause of obesity, resulting from the loss of paternal gene expression in the 15q11-q13 region.
  • Limited data exists on simultaneous gene expression patterns in PWS.

Purpose of the Study:

  • To investigate and compare gene expression profiles in lymphoblastoid cell lines from individuals with PWS (deletion and UPD subtypes) and controls.
  • To identify candidate genes contributing to phenotypic differences in PWS.

Main Methods:

  • Custom cDNA microarrays with 73 non-redundant genes/transcripts from the 15q11-q13 region were utilized.
  • Gene expression was compared between six PWS males (three deletion, three UPD) and three control males using actively growing lymphoblastoid cell lines.

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Main Results:

  • Paternally expressed genes in the PWS critical region showed no expression in deletion or UPD cell lines.
  • Maternally expressed genes UBE3A and ATP10C exhibited significantly increased expression in UPD cell lines compared to controls and deletion subjects.
  • Genes GABRA5 and GABRB3 showed increased expression in UPD compared to deletion, but less than controls, suggesting paternal bias.

Conclusions:

  • Gene expression differences, particularly in maternally expressed genes, may contribute to phenotypic variability observed between PWS deletion and UPD subtypes.
  • Further research is warranted to elucidate the role of these candidate genes in PWS pathogenesis.