Background: In the pig, multiple QTL associated with growth and fatness traits have been mapped to chromosome 2 (SSC2) and among these, at least one shows paternal expression due to the IGF2-intron3-G3072A substitution. Previously published results on the position and imprinting status of this QTL disagree between analyses from French and Dutch F2 crossbred pig populations obtained with the same breeds (Meishan crossed with Large White or Landrace).

Methods: To study the role of paternal and maternal alleles at the IGF2 locus and to test the hypothesis of a second QTL affecting backfat thickness on the short arm of SSC2 (SSC2p), a QTL mapping analysis was carried out on a combined pedigree including both the French and Dutch F2 populations, on the progeny of F1 males that were heterozygous (A/G) and homozygous (G/G) at the IGF2 locus. Simulations were performed to clarify the relations between the two QTL and to understand to what extent they can explain the discrepancies previously reported.

Results: The QTL analyses showed the segregation of at least two QTL on chromosome 2 in both pedigrees, i.e. the IGF2 locus and a second QTL segregating at least in the G/G F1 males and located between positions 30 and 51 cM. Statistical analyses highlighted that the maternally inherited allele at the IGF2 locus had a significant effect but simulation studies showed that this is probably a spurious effect due to the segregation of the second QTL.

Conclusions: Our results show that two QTL on SSC2p affect backfat thickness. Differences in the pedigree structures and in the number of heterozygous females at the IGF2 locus result in different imprinting statuses in the two pedigrees studied. The spurious effect observed when a maternally allele is present at the IGF2 locus, is in fact due to the presence of a second closely located QTL. This work confirms that pig chromosome 2 is a major region associated with fattening traits.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3073881PMC
http://dx.doi.org/10.1186/1297-9686-43-11DOI Listing

Publication Analysis

Top Keywords

igf2 locus
24
backfat thickness
12
qtl
11
french dutch
8
second qtl
8
allele igf2
8
igf2
6
locus
6
number mode
4
mode inheritance
4

Similar Publications

Epigenetic dysregulation of H19/IGF2 in hepatic cells exposed to toxic metal mixtures in vitro.

Sci Rep

November 2024

Institute of Health and Environment, Graduate School of Public Health, Seoul National University, Seoul, Republic of Korea.

Exposure to mixtures of toxic metals is known to cause adverse health effects through epigenetic alterations. Here we aimed to examine the unexplored area of aberrant DNA methylation in the H19/IGF2 domain following combined toxic metal exposure. An in vitro epigenotoxicity assay using the human normal liver epithelial cell line THLE-3 was conducted.

View Article and Find Full Text PDF

The molecular genetics of adrenal cushing.

Hormones (Athens)

December 2024

Genomic and Signaling of Endocrine Tumors team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris, 75005, France.

Article Synopsis
  • - Adrenal Cushing accounts for 20% of cases of hypercorticism, with unilateral cortisol-producing adenomas (benign tumors) being more common than malignant adrenocortical carcinoma (ACC) and bilateral adrenal diseases.
  • - Key signaling pathways involved in these tumors include protein kinase A and Wnt/β-catenin, with genetic predispositions identified through research on familial cases and pangenomic sequencing.
  • - ACC is often linked to TP53 mutations, particularly in children, and can be associated with various hereditary syndromes, while cortisol-producing adenomas show mutations primarily in PRKACA and CTNNB1.
View Article and Find Full Text PDF

Background: The genetic basis for hyperglycaemia in pregnancy remain unclear. This study aimed to uncover the genetic determinants of gestational diabetes mellitus (GDM) and investigate their applications.

Methods: We performed a meta-analysis of genome-wide association studies (GWAS) for GDM in Chinese women (464 cases and 1,217 controls), followed by de novo replications in an independent Chinese cohort (564 cases and 572 controls) and in silico replication in European (12,332 cases and 131,109 controls) and multi-ethnic populations (5,485 cases and 347,856 controls).

View Article and Find Full Text PDF

Methylation alterations of imprinted genes in different placental diseases.

Clin Epigenetics

September 2024

Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University, No.63 Duobao Road, Liwan District, Guangzhou, 510150, Guangdong, China.

Background: Imprinted genes play important functions in placentation and pregnancy; however, research on their roles in different placental diseases is limited. It is believed that epigenetic alterations, such as DNA methylation, of placental imprinting genes may contribute to the different pathological features of severe placental diseases, such as pre-eclampsia (PE) and placenta accreta spectrum disorders (PAS).

Results: In this study, we conducted a comparative analysis of the methylation and expression of placental imprinted genes between PE and PAS using bisulfite sequencing polymerase chain reaction (PCR) and quantitative PCR, respectively.

View Article and Find Full Text PDF

Inter-Ethnic Variations in the Clinical, Pathological, and Molecular Characteristics of Wilms Tumor.

Cancers (Basel)

September 2024

VIVA-KKH Paediatric Brain and Solid Tumour Programme, Children's Blood and Cancer Centre, KK Women's and Children's Hospital, Singapore 229899, Singapore.

Article Synopsis
  • * Asian children have a lower incidence and present with Wilms tumor at a younger age than Caucasians and Africans, often with more favorable tumor types, while African children tend to have more advanced disease at diagnosis.
  • * Differences in genetic mutations and imbalances may explain these variations, but research is complicated by treatment differences and limited data availability, especially in under-resourced areas.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!