The 11p15 region is organised into two independent imprinted domains controlled by imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes. The mouse orthologous region on distal chromosome 7 (dist7) is well conserved in its organisation and its regulation. Targeted mutagenesis in mice has provided highly valuable clues in terms of the mechanisms involved in the regulation of genomic imprinting of the 11p15/dist7 imprinted region. On the other hand, the recent identification of unexpected genetic defects in BWS and SRS patients also brought new insights into the mechanisms of 11p15 imprinting regulation. However, some mouse models and human genetic defects show contradictions in term of growth phenotypes and parental transmission. In this review, we extensively analyse those various mouse and human models and more particularly models with mutations affecting the two imprinting centres, in order to improve our understanding of regulation of 11p15/dist7 genomic imprinting. arabic 21 English 117
Mansur Ennuri Moftah Shmela, C. F. Gicquel(1-2013)

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)

As little is known about the blood profile of camels in Libya, this article is the third of a 4-part series describing the biochemical and haematological blood profile in Libyan camels. In part 1 of these manuscripts, the overall blood biochemical and haematological mean values of camels in Libya were determined, parts 2-4 evaluate the effects of breed, gender and age respectively on these values. Blood samples were collected from 24 male and 42 female apparently healthy camels and the levels of enzymes, metabolites, electrolytes and haematological indices were measured. The blood of the male camels showed higher values of aspartate aminotransferase (AST), Lactate dehydrogenase (LDH), Amylase (AMS), total proteins, globulin and Phosphorus (Ph), than the female camels which showed higher values of glucose, Albumin/Globulin (A/G) ratio, urea, Iron (Fe), Calcium (Ca), Packed Cell volume (PCV), Haemoglobin (Hb), erythrocyte osmotic fragility, Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH), neutrophil and monocyte numbers. This study shows significant sex differences between male and female Libyan camels in many haematological and biochemical analytes. arabic 28 English 141
Anwar Mustafa Abdalhadi Abdalmula, Fathia mahmoud Mohammad Ashour, Mansur Ennuri Moftah Shmela, Fahima A Alnagar, Ismail M Abograra, Amal Omar Elarif Buker(1-2019)