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Development of type 2 diabetes following intrauterine growth retardation in rats is associated with progressive epigenetic silencing of Pdx1.
Insight is provided into the development of type 2 diabetes following IUGR and the first to describe the ontogeny of chromatin remodeling in vivo from the fetus to the onset of disease in adulthood is described. Expand
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
It is proposed that KvDMR1 and/or its associated antisense RNA (KvLQT1-AS) represents an additional imprinting control element or center in the human 11p15.5 and mouse distal 7 imprinted domains. Expand
Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, andExpand
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences
A high-quality draft of the genome sequence of the grey, short-tailed opossum is reported, indicating a strong influence of biased gene conversion on nucleotide sequence composition, and a relationship between chromosomal characteristics and X chromosome inactivation. Expand
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
Clinically, the data indicate that the five molecular classes can be divided into four phenotypic groups: deletions, UPD and ID patients,UBE3A mutation patients, and subjects with unknown aetiology. Expand
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes (PWS and AS) represents a paradigm for understanding the relationships between genome structure, epigenetics,Expand
The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system.
The ancient origin of MKRN1, high degree of conservation, and expression pattern suggest important developmental and functional roles for this gene and its expressed family members. Expand
Allele-specific replication timing of imprinted gene regions
Examination of replication timing patterns for the chromosomal regions containing the imprinted genes Igf2, Igf 2r, H19 and Snrpn in the mouse reveals that the two homologous alleles replicate asynchronously and it is always the paternal allele that is early-replicating. Expand
Imprinting-mutation mechanisms in Prader-Willi syndrome.
It is suggested that promoter elements at SNRPN play a key role in the initiation of imprint switching during spermatogenesis, since the epigenetic effect of an IM in the parental germ line determines the phenotypic effect in the patient. Expand
Imprinting in Prader-Willi and Angelman syndromes.
Imprinted genes are marked in the germline and retain molecular memory of their parental origin, resulting in allelic expression differences during development. Abnormalities in imprinted inheritanceExpand