Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

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Muurinen , M , Hannula-Jouppi , K , Reinius , L E , Soderhall , C , Merid , K , Bergstrom , A , Melen , E , Pershagen , G , Lipsanen-Nyman , M , Greco , D & Kere , J 2017 , ' Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children ' , Scientific Reports , vol. 7 , 15693 . https://doi.org/10.1038/s41598-017-16070-5

Title: Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children
Author: Muurinen, Mari; Hannula-Jouppi, Katariina; Reinius, Lovisa E.; Soderhall, Cilla; Merid, Kebede; Bergstrom, Anna; Melen, Erik; Pershagen, Goran; Lipsanen-Nyman, Marita; Greco, Dario; Kere, Juha
Contributor: University of Helsinki, Research Programs Unit
University of Helsinki, Research Programs Unit
University of Helsinki, Clinicum
University of Helsinki, Institute of Biotechnology
University of Helsinki, Research Programs Unit
Date: 2017-11-16
Language: eng
Number of pages: 11
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/229011
Abstract: Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7) mat] explain 20-60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of HOXA4 in 55% of the patients. We then tested 39 patients with severe growth restriction of unknown etiology, and found hypomethylation of HOXA4 in 44% of the patients. Finally, we found that methylation at multiple CpG sites in the HOXA4 promoter region was associated with height in a cohort of 227 healthy children, suggesting that HOXA4 may play a role in regulating human growth by epigenetic mechanisms.
Subject: DNA METHYLATION
PATERNAL ISODISOMY
UNIPARENTAL DISOMY
IMPRINTED GENES
CHROMOSOME 11P15
AGE
EXPRESSION
LOCI
WIDE
IDENTIFICATION
3123 Gynaecology and paediatrics
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