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Published on: September 22, 2020
Transcript variants, expression, and polymorphisms of the pig prosaposin gene
Meixia Fang1, Xiaomei He, Wei Zhang
1Department of Laboratory Animal Science, Medical College of Jinan University, Guangzhou, China.
This study characterizes the pig prosaposin (PASP) gene, detailing its genomic structure, two transcripts (TV1 and TV2), and tissue-specific expression patterns. Genetic variations, including nonsynonymous substitutions, were identified, offering insights into PASP
Area of Science:
- Genomics
- Molecular Biology
- Animal Genetics
Background:
- Prosaposin (PASP) is a crucial sphingolipid hydrolysis protein involved in nervous and reproductive system functions.
- Understanding the genetic makeup and expression of PASP is vital for elucidating its biological roles.
Purpose of the Study:
- To clone and characterize the pig prosaposin (PASP) gene.
- To investigate its genomic organization, identify polymorphisms, and analyze expression patterns of its transcripts.
- To provide foundational data for future functional studies of pig PASP.
Main Methods:
- Gene cloning and sequencing of pig PASP.
- Analysis of genomic organization, including exon-intron structure and chromosomal location (SSC14).
- Quantitative expression analysis of PASP transcripts (TV1 and TV2) across various tissues and sexes using RT-PCR or similar techniques.
- Identification and characterization of single-nucleotide polymorphisms (SNPs) and insertions/deletions (indels).
Main Results:
- Two pig PASP transcripts, TV1 (complete, 527 aa) and TV2 (9 bp shorter due to exon 8 deletion), were identified.
- The pig PASP gene spans over 34 kb on SSC14, comprising 15 exons and 14 introns.
- PASP gene expression was predominant in cerebellum, lymph node, pituitary, hypothalamus, cerebrum, and abdominal fat in both sexes.
- TV1 expression was higher in cerebrum, cerebellum, pituitary, heart, and muscle, while TV2 was prominent in liver, spleen, lung, and kidney.
- Transcript usage in foreleg muscle differed between sexes: TV2 in males and TV1 in females.
- 68 SNPs and 9 indels were found, including three nonsynonymous substitutions (L15F, P191L, K522R).
- Potential regulatory elements (TATA, RORE, Sp1, etc.) were predicted in the 5' flanking region.
Conclusions:
- The study provides a comprehensive characterization of the pig PASP gene, including its transcripts, genomic structure, and expression profiles.
- Identified genetic variations, particularly nonsynonymous SNPs, may influence PASP function and warrant further investigation.
- Tissue- and sex-specific expression patterns suggest diverse roles for PASP and its transcripts in pigs.
- This research lays the groundwork for future functional studies aimed at understanding PASP's contribution to pig physiology and health.
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