NDLI: A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals

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A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals

Content Provider	PubMed Central
Author	Xiao, Qianjun Wu, Xiao-lin Michal, Jennifer J. Reeves, Jerry J. Busboom, Jan R. Thorgaard, Gary H. Jiang, Zhihua
Copyright Year	2006
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 F2 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 F2 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.
Ending Page	178
Starting Page	171
File Format	PDF
ISSN	14492288
e-ISSN	14492288
Journal	International Journal of Biological Sciences
Issue Number	4
Volume Number	2
Language	English
Publisher	Ivyspring International Publisher
Publisher Date	2006-05-18
Access Restriction	Open
Rights Holder	Ivyspring International Publisher
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Cell Biology Developmental Biology Molecular Biology Ecology, Evolution, Behavior and Systematics Applied Microbiology and Biotechnology

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