Early holocenic and historic mtDNA african signatures in the iberian peninsula: The andalusian region as a paradigm

Determining the timing, identity and direction of migrations in the Mediterranean Basin, the role of "migratory routes" in and among regions of Africa, Europe and Asia, and the effects of sex-specific behaviors of population movements have important implications for our understanding of the present human genetic diversity. A crucial component of the Mediterranean world is its westernmost region. Clear features of transcontinental ancient contacts between North African and Iberian populations surrounding the maritime region of Gibraltar Strait have been identified from archeological data. The attempt to discern origin and dates of migration between close geographically related regions has been a challenge in the field of uniparental-based population genetics. Mitochondrial DNA (mtDNA) studies have been focused on surveying the H1, H3 and V lineages when trying to ascertain north-south migrations, and U6 and L in the opposite direction, assuming that those lineages are good proxies for the ancestry of each side of the Mediterranean. To this end, in the present work we have screened entire mtDNA sequences belonging to U6, M1 and L haplogroups in Andalusians--from Huelva and Granada provinces--and Moroccan Berbers. We present here pioneer data and interpretations on the role of NW Africa and the Iberian Peninsula regarding the time of origin, number of founders and expansion directions of these specific markers. The estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that U6 and some L lineages moved together from Africa to Iberia in the Early Holocene. Still, founder analysis highlights that the high sharing of lineages between North Africa and Iberia results from a complex process continued through time, impairing simplistic interpretations. In particular, our work supports the existence of an ancient, frequently denied, bridge connecting the Maghreb and Andalusia.Financial support was provided by the Spanish Ministry of Competitiveness through Research Project CGL2010-15191/BOS granted to RC and International Mobility Program Acciones Integradas Hispano-Portuguesas (PRI-AIBPT-2011-1004) granted to RC (Spain) and LP (Portugal) (http://www.mineco.gob.es/portal/site/mineco/idi). The E.C. Sixth Framework Programme under Contract n° ERAS-CT-2003-980409 (EUROCORES project of the European Science Foundation) also provided financial support to JMD for North African population research. CLH has a predoctoral fellowship granted by Complutense University. PS is supported by FCT Investigator Programme (IF/01641/2013). IPATIMUP (https://www.ipatimup.pt/) integrates the Instituto the Investigação em Saúde (i3S) Research Unit, which is partially supported by FCT, the Portuguese Foundation for Science and Technology. IPATIMUP is funded by FEDER funds through the Operational Programme for Competitiveness Factors - COMPETE and National Funds through the FCT - under the project PEst-C/SAU/LA0003/2013. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia:

BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as "non-specific Intellectual Disability". The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation. METHODS: We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13 ARX patients, kinematic and MRI studies were further accomplished to better characterize the motor impairment prevalent in the ARX patients group. To ensure that data were specific to the ARX gene mutation and did not result from low-cognitive functioning per se, a group of 27 age- and IQ-matched Down syndrome patients served as control. RESULTS: Neuropsychological and motor assessment indicated that the c.429_452dup24 mutation constitutes a recognizable clinical syndrome: ARX patients exhibiting Intellectual Disability, without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip. Patients affected with the so-called Partington syndrome, which involves major hand dystonia and orolingual apraxia, exhibit the most severe symptoms of the disorder. The particular "reach and grip" impairment which was observed in all ARX patients, but not in Down syndrome patients, was further characterized by the kinematic data: (i) loss of preference for the index finger when gripping an object, (ii) major impairment of fourth finger deftness, and (iii) a lack of pronation movements. This lack of distal movement coordination exhibited by ARX patients is associated with the loss of independent digital dexterity and is similar to the distortion of individual finger movements and posture observed in Limb Kinetic Apraxia. CONCLUSION: These findings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia

1 | Abadir – Acridophagie

Ouvrage publié avec le concours et sur la recommandation du Conseil international de la philosophie et des sciences humaines (UNESCO). Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-85744-202-

27 | Kairouan – Kifan Bel-Ghomari

Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-7449-0538-4

21 | Gland – Hadjarien

Publié avec le concours du Centre national du livre (CNL) et sur recommandation du Conseil international de la philosophie et des sciences humaines (UNESCO). Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-7449-0097-6

15 | Daphnitae – Djado

Publié avec le concours du Centre national du livre (CNL) et sur recommandation du Conseil international de la philosophie et des sciences humaines (UNESCO). Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-85744-808-2

12 | Capsa – Cheval

Ouvrage publié avec le concours et sur la recommandation du Conseil international de la philosophie et des sciences humaines (UNESCO). Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-85744-625-5

12 | Capsa – Cheval

Ouvrage publié avec le concours et sur la recommandation du Conseil international de la philosophie et des sciences humaines (UNESCO). Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn : 978-2-85744-625-5

28-29 | Kirtēsii – Lutte

Ce volume, à l'origine publié par Edisud, est désormais diffusé par les Editions Peeters sous l'Isbn 978-90-429-2485-7