Genetic and physical mapping, expression analysis and partial sequence of porcine PER1

Area of Science:

• Comparative Genomics
• Molecular Biology
• Mammalian Genetics

Background:

• The PER1 gene, a core component of the circadian clock, is crucial for regulating physiological rhythms.
• Understanding the genetic makeup and evolutionary conservation of PER1 in different mammalian species is vital for biological research.

Purpose of the Study:

• To physically map the porcine PER1 gene on the pig genome.
• To identify and characterize a microsatellite marker linked to the porcine PER1 gene.
• To investigate the expression pattern and sequence homology of the porcine PER1 gene with its human ortholog.

Main Methods:

• Fluorescence in situ hybridisation (FISH) was employed for gene mapping.
• Microsatellite marker isolation from a bacterial artificial chromosome (BAC) clone.
• Linkage analysis and reverse transcription-polymerase chain reaction (RT-PCR) for gene expression analysis.
• Gene sequencing to determine protein homology.

Main Results:

• The porcine PER1 gene was successfully mapped to chromosome 12q1.4-->q1.5.
• A polymorphic microsatellite marker (S0601) was identified and linked to PER1, confirming conserved synteny between human chromosome 17 and pig chromosome 12.
• PER1 expression was detected in all 11 porcine tissues examined, and the partial protein sequence showed over 96% identity to human PER1.

Conclusions:

• This study provides a detailed physical map and genetic marker for the porcine PER1 gene.
• The high sequence conservation of PER1 between pigs and humans underscores its functional importance and facilitates cross-species research.
• The findings contribute to a better understanding of circadian clock gene evolution and function in mammals.