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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: the chromosomal region 14q32–14q32.33 is one of those subject to genomic imprinting, an epigenetic germline modification that determines differences in gene expression depending on parental origin. Uniparental disomy (UPD) describes the situation in which both homologs of a chromosome pair are inherited exclusively from one parent and results in overexpression of some genes and absence of expression of others. Consequently paternal and maternal uniparental disomy for chromosome 14 (UPD(14)pat and UPD(14)mat) cause distinct phenotypes. Among the paternally expressed genes (PEGs) are DLK1 and RTL1, while among the maternally expressed genes (MEGs) are MEG3 (or GTL2), RTL1 as (RTL1 antisense) and MEG8. Most cases of UPD14 are secondary to abnormal segregation at meiosis of a paternal Robertsonian translocation, resulting in a trisomic zygote with the subsequent loss of one of the three copies of the chromosome involved (trisomy rescue).
Long non-coding RNA MEG3 and its genetic variant rs941576 are associated with rheumatoid arthritis pathogenesis in Egyptian patients
Published in Archives of Physiology and Biochemistry, 2022
Alaa S. Wahba, Maha E. Ibrahim, Noha M. Mesbah, Samy M. Saleh, Dina M. Abo-elmatty, Eman T. Mehanna
Maternally expressed gene 3 (MEG3) is a tumour suppressor lncRNA of the imprinted Delta-like homolog 1 (DLK1)–MEG3 locus which is located on human 14q32 chromosome (Benetatos et al.2011). This locus contains paternally expressed protein-coding genes, DLK1, Retrotransposon-like protein 1(RTL1) and thyroxine 5-deiodinase (DIO3) and maternally expressed non-coding RNAs, consisting of the lncRNA MEG3, several microRNAs and small nucleolar RNAs (da Rocha et al.2008). Methylation of two differentially methylated regions (DMRs) on the paternal allele, one located upstream of the MEG3 transcription start site (IG-DMR), and the other overlapping with the promoter of the MEG3 (MEG3-DMR) maintains reciprocal imprinting between protein-coding genes and non-coding RNAs (Benetatos et al.2011).