Journal article
A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals
International journal of biological sciences, Vol.2(4), pp.171-178
01/01/2006
Handle:
https://hdl.handle.net/2376/114567
PMCID: PMC1483122
PMID: 16810331
Abstract
People with obesity, especially extreme obesity, are at risk for many health problems. However, the responsible genes remain unknown in >95% of severe obesity cases. Our previous genome-wide scan of Wagyu x Limousin F
2
cattle crosses with extreme phenotypes revealed a molecular marker significantly associated with intramuscular fat deposition. Characterization of this marker showed that it is orthologous to the human gene
KIAA1462
located on HSA10p11.23, where a major quantitative trait locus for morbid obesity has been reported. The newly identified mitochondrial poly(A) polymerase associated domain containing 1 (
PAPD1
) gene, which is located near this marker, is particularly interesting because the polymerase is required for the polyadenylation and stabilization of mammalian mitochondrial mRNAs. In the present study, both cDNA and genomic DNA sequences were annotated for the bovine
PAPD1
gene and ten genetic markers were detected in the promoter and exon 1 region. Among seven markers assayed on ~ 250 Wagyu x Limousin F
2
animals, two single nucleotide polymorphisms (SNPs) in the promoter region were significantly associated with intramuscular fat (P<0.05). However, there was a significant interaction (P<0.05) between a third SNP, which causes an amino acid change in coding exon 1, and each of these two promoter SNPs on intramuscular fat deposition. In particular, the differences between double heterozygous animals at two polymorphic sites and the slim genotype animals exceeded 2.3 standard deviations for the trait in both cases. Our study provides evidence for a new mechanism – the involvement of compound heterosis in extreme obesity, which warrants further examination.
Metrics
9 Record Views
Details
- Title
- A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals
- Creators
- Qianjun Xiao - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USAXiao-Lin Wu - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USAJennifer J Michal - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USAJerry J Reeves - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USAJan R Busboom - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USAGary H Thorgaard - 2. School of Biological Sciences, Washington State University, Pullman, WA 99164- 4236 USAZhihua Jiang - 1. Department of Animal Sciences, Washington State University, Pullman, WA 99164- 6351, USA
- Publication Details
- International journal of biological sciences, Vol.2(4), pp.171-178
- Academic Unit
- Animal Sciences, Department of; Biological Sciences, School of
- Publisher
- Ivyspring International Publisher; Sydney
- Identifiers
- 99900548470201842
- Language
- English
- Resource Type
- Journal article