A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues.
The closely linked IGF2 and H19 genes on human chromosome 11p15.5 are monoallelically expressed as a result of genomic imprinting and show altered expression in Wilms' tumors (WTs). To map regional imprinting we have sought to isolate additional human genes close to IGF2/H19 and to characterize their allelic expression patterns. Here we report a novel gene, provisionally named L23MRP [L23 (mitochondrial)-related protein], which is oriented 'tail-to-tail' with H19 and is transcribed to within 40 kb of the last H19 exon. L23MRP is expressed biallelically in many mid-fetal and adult human tissues. This gene is also expressed at normal levels in WTs which have lost expression of H19 either via loss of the maternal chromosome 11p15.5 or via an epigenetic pathway involving site-specific DNA hypermethylation. These data indicate that, at least in post-embryonic stages, L23MRP is functionally insulated from the IGF2/H19 imprinted domain.
Tsang
P
P
Department of Pathology, Columbia University College of Physicians and Surgeons, USA.
Gilles
F
F
Yuan
L
L
Kuo
Y H
YH
Lupu
F
F
Samara
G
G
Moosikasuwan
J
J
Goye
A
A
Zelenetz
A D
AD
Selleri
L
L
D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000378:metabolism; D018076:DNA, Complementary; D005333:Fetus / Q000378:metabolism*; D018507:Gene Expression Regulation, Developmental; D018392:Genomic Imprinting; D006801:Humans; D008745:Methylation; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D022661:RNA, Untranslated; D016601:RNA-Binding Proteins; D012269:Ribosomal Proteins; D017386:Sequence Homology, Amino Acid
D018076:DNA, Complementary; C094335:H19 long non-coding RNA; C097584:MRPL23 protein, human; D024101:Mitochondrial Proteins; D009124:Muscle Proteins; D011506:Proteins; D062085:RNA, Long Noncoding; D012333:RNA, Messenger; D022661:RNA, Untranslated; D016601:RNA-Binding Proteins; D012269:Ribosomal Proteins; D004247:DNA