The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This methylation-sensitive chromatin insulator works by binding the zincfinger protein CTCF in a parent-specific manner. DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith– Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver–Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). Although a few deletions removing part of ICR1 have been described in some familial BWS cases, little information is available regarding the mechanism of ICR1 DNA methylation defects. We investigated the CTCF gene and the ICR1 domain in 21 BWS patients with ICR1 gain of methylation and 16 SRS patients with ICR1 loss of methylation. We identified four constitutional ICR1 genetic defects in BWS patients, including a familial case. Three of those defects are newly identified imprinting defects consisting of small deletions and a single mutation, which do not involve one of the CTCF binding sites. Moreover, two of those defects affect OCT-binding sequences which are suggested to maintain the unmethylated state of the maternal allele. A single-nucleotide variation was identified in a SRS patient. Our data extends the spectrum of constitutive genetic ICR1 abnormalities and suggests that extensive and accurate analysis of ICR1 is required for appropriate genetic counseling in BWS patients with ICR1 gain of methylation.
Demars, J., Mansur Ennuri Moftah Shmela, S. Rossignol, J. Okabe, I. Netchine, S. Azzi, S. Cabrol, C. Le Caignec, A. David , Y. Le Bouc, A. El-Osta , C. Gicquel(9-2010)

LOCUS KF632582 547 bp DNA linear VRL 07-DEC-2013 DEFINITION Gallid herpesvirus 1 strain ILT-1 glycoprotein G gene, partial cds. ACCESSION KF632582 VERSION KF632582.1
Abdulatif Asheg(9-2013)

ABSTRACT Background: The objective of this study was to evaluate changes of haematological and biochemical parameters in Hejazi goats under synchronization protocols treatment. Methods:Forty fertile and healthy female Hejazi goats were divided equally and randomly into four groups (n=10). All synchronization protocols started 7 days after the first 125 µg Cloprostenol injection (i.m.). The first group received CIDR treatment for 7 days only and followed by injection of second dose of PGF2α and 400 IU of PMSG, and the second group received CIDR treatment for 14 days and followed by injection of second dose of PGF2α and 400 IU of PMSG, and the third group received injection of 0.004 µg of synthetic GnRH analogue for 7 days and followed on day 14 by a second injection of 125 µg PGF2α followed by second injection of 0.004 µg of synthetic GnRH analogue, the fourth group received two doses of 125 µg PGF2α with14 days interval. Blood samples were collected from all of the does for biochemical analysis. Results: Observations showed no external or behaviour changes recorded and slight changes in all groups in diagnostic parameters. The conception rate tended to be decrease specific with increase in other days Conclusions: This study showed that monitoring the biochemical diagnostic parameters in the four groups going different protocols we didn’t record any significant different (P>0.05). The current study suggests that CIDR treatment for short and long are safe in Hejazi doe
Marwan M. Draid, Abdurraouf O. Gaja, Hoda R. Shnaishah(6-2021)