Association mapping of the central part of porcine chromosome 2 harboring QTLs for carcass and meat quality traits was performed with 17 gene-tagged SNPs located between 44.0 and 77.5 Mb on a physical map (Sscrofa10.2) in Italian Large White pigs. For the analyzed animals records of estimated breeding values for average daily gain, back fat thickness, lean cuts, ham weight, feed conversion ratio, pH1, pHu, CIE L*, CIE a*, CIE b* and drip loss were available. A significant QTL for fat deposition (adjusted P=0.0081) and pH1 (adjusted P=0.0972) to MYOD1 at position 44.4 Mb and a QTL for growth and meatiness (adjusted P=0.0238-0.0601) to UBL5 at position 68.9 Mb were mapped. These results from association mapping are much more accurate than those from linkage mapping and facilitate further search for position candidate genes and causative mutations needed for application of markers through marker assisted selection.
- MeSH
- Breeding MeSH
- Phenotype MeSH
- Polymorphism, Single Nucleotide MeSH
- Hydrogen-Ion Concentration MeSH
- Food Quality * MeSH
- Quantitative Trait Loci * MeSH
- Chromosome Mapping methods MeSH
- Meat analysis MeSH
- MyoD Protein genetics MeSH
- Swine genetics MeSH
- Body Weight MeSH
- Animals MeSH
- Check Tag
- Male MeSH
- Female MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. There are two major histopathological types of RMS – embryonal (eRMS) and alveolar (aRMS). A molecular study of Igf2, MyoD1 and Myogenin was performed to determine the expression profiles and to assess the possible utility of these genes as potential treatment targets. Patients with RMS showed up to 100-fold increase of Igf2 transcription in comparison with normal skeletal muscle. Our data suggest that overexpression of Igf2 occurs in RMS of both histological subtypes. No correlation between the results of Igf2 mRNA expression and LOH at the 11p15 region (p= 0.12) was observed, but there was a trend of a higher expression of Igf2 mRNA in RMS samples with LOH. We observed a high level of MyoD1 mRNA in both aRMS and eRMS, and we detected a similar level of MyoD1 mRNA in RMS and normal skeletal muscles. There was a correlation between the results of MyoD1 mRNA expression and LOH at the 11p15 region.We did not observe any statistical difference in the level of Myogenin mRNA in the subgroups of RMS. Analogous to MyoD1, we observed a similar level of Myogenin mRNA in RMS and normal skeletal muscles.
- MeSH
- Rhabdomyosarcoma, Alveolar genetics MeSH
- Adult MeSH
- Rhabdomyosarcoma, Embryonal genetics MeSH
- Oncogene Proteins, Fusion genetics MeSH
- Insulin-Like Growth Factor II genetics MeSH
- Muscle, Skeletal metabolism pathology MeSH
- Bone Marrow metabolism pathology MeSH
- Humans MeSH
- RNA, Messenger genetics MeSH
- Survival Rate MeSH
- MyoD Protein genetics MeSH
- Myogenin genetics MeSH
- Biomarkers, Tumor genetics MeSH
- Reverse Transcriptase Polymerase Chain Reaction MeSH
- Prognosis MeSH
- PAX7 Transcription Factor genetics MeSH
- Loss of Heterozygosity MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Childhood rhabdomyosarcoma (RMS) has two major histological subtypes: alveolar (aRMS) and embryonal. The aim of the study was to monitor minimal disseminated disease (MDD) using real-time quantitative reverse-transcription PCR (RQ-RT-PCR) of the PAX3-FKHR, PAX7-FKHR fusion genes and myoD1 gene. We prepared an assay using RQ-RT-PCR for a quantitative assessment of MDD in aRMS by using hydrolysis probe for quantification of PAX3-FKHR, PAX7-FKHR and myoD1 genes and beta-2-microglobulin housekeeping gene. Primary tumor samples (44), samples of local recurrences (26) from 48 patients with aRMS were examined by nested RT-PCR and RQ-RT-PCR techniques. Additionally, bone marrow samples (115), peripheral blood progenitor cell samples (27), and peripheral blood samples (25) from 33 aRMS patients were tested. PAX3/7-FKHR and myoD1 transcripts proved to be a sensitive tool for detection of MDD in RMS. We were able to identify 15/25 patients with bone marrow (BM) involvement at the time of presentation using RQ-RT-PCR. We analyzed PAX3-FKHR or PAX7-FKHR expression during the course of the disease. The RQ-RT-PCR results correlated well with nested RT-PCR results (p < 0.0001). The presence of metastases is the most adverse prognostic factor in RMS, and bone marrow is a frequent site of the tumor dissemination in RMS, especially in aRMS. Our results detecting the fusion transcripts or myoD1 transcript in the BM or peripheral blood suggest that patients with positive findings are at high risk of the tumor progression.
- MeSH
- Rhabdomyosarcoma, Alveolar chemistry genetics pathology MeSH
- Child MeSH
- Rhabdomyosarcoma, Embryonal genetics pathology MeSH
- Forkhead Transcription Factors analysis MeSH
- Infant MeSH
- Bone Marrow chemistry pathology MeSH
- Humans MeSH
- Neoplasm Recurrence, Local pathology MeSH
- Adolescent MeSH
- Young Adult MeSH
- MyoD Protein genetics MeSH
- Biomarkers, Tumor analysis MeSH
- Reverse Transcriptase Polymerase Chain Reaction methods MeSH
- Child, Preschool MeSH
- Prognosis MeSH
- Recombinant Fusion Proteins analysis MeSH
- Rhabdomyosarcoma chemistry genetics mortality pathology MeSH
- PAX7 Transcription Factor analysis MeSH
- Paired Box Transcription Factors analysis MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
