La croissance fœtale est un processus complexe dépendant de facteurs génétiques, environnementaux, nutritionnels et hormonaux d’origine maternelle, placentaire et fœtale. Le système IGF est l’un des systèmes hormonaux les plus importants pour la régulation de la croissance fœtale et placentaire [1]. Le gène IGF-II est régulé par le phénomène d’empreinte parentale et est exprimé seulement à partir de l’allèle paternel dans la majorité des tissus pendant la vie fœtale. Les gènes soumis à empreinte parentale sont régulés de manière spécifique et sont particulièrement vulnérables aux signaux environnementaux et nutritionnels. La dérégulation d’un groupe de gènes de la région 11p15 soumise à empreinte parentale, incluant le gène IGF-II, est responsable de deux pathologies de croissance fœtale (les syndromes de Silver-Russell, OMIM 180860 et de Wiedemann-Beckwith, OMIM 130650) qui ont une présentation phénotypique opposée. Ces deux syndromes représentent d’excellents modèles de pathologies humaines pour l’étude de la régulation de l’empreinte parentale. arabic 9 English 26
- Demars, J , S. Rossignol, Mansur Ennuri Moftah Shmela, I. Netchine, S. Azzi, A. El-Osta, Y. Le Bouc, C. Gicquel(1-2012)

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)