Genomes and Genes
Andrew P Jackson
Affiliation: University of Leeds
- Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pterA P Jackson
Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, United Kingdom
Am J Hum Genet 63:541-6. 1998..1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly...
- Identification of microcephalin, a protein implicated in determining the size of the human brainAndrew P Jackson
Molecular Medicine Unit, University of Leeds, United Kingdom
Am J Hum Genet 71:136-42. 2002..This gene, microcephalin, is expressed in the developing cerebral cortex of the fetal brain. Further study of this and related genes may provide important new insights into neocortical development and evolution...
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow
Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
Nat Genet 38:910-6. 2006..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...
- Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow
Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
Nat Genet 38:917-20. 2006..Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response...
- Microcephalin: a causal link between impaired damage response signalling and microcephalyMark O'Driscoll
Genome Damage and Stability Centre, University of Sussex, East Sussex, UK
Cell Cycle 5:2339-44. 2006..Recent studies will be reviewed and their relationship to the aetiology of microcephaly discussed...
- What primary microcephaly can tell us about brain growthJames Cox
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, CB2 2XY Cambridge, UK
Trends Mol Med 12:358-66. 2006..The aim of this article is to review what has been learnt about the rare condition primary microcephaly and the information this provides about normal brain growth...
- Regulation of mitotic entry by microcephalin and its overlap with ATR signallingGemma K Alderton
Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK
Nat Cell Biol 8:725-33. 2006..Thus, MCPH1 also has an ATR-independent role in maintaining inhibitory Cdk1 phosphorylation, which prevents premature entry into mitosis...
- The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn
Institut fur Humangenetik, Charite Universitatsmedizin Berlin, Germany
Hum Mutat 26:496. 2005..Additionally, head circumference was less severely affected, being -2.4 SD at birth and -3 SD at the age of six years. This justifies reconsideration and widening of the clinical phenotype definition of MCPH1...
- Mutations in microcephalin cause aberrant regulation of chromosome condensationMarc Trimborn
Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany
Am J Hum Genet 75:261-6. 2004..Further characterization of MCPH1 is thus likely to lead to fundamental insights into both the regulation of chromosome condensation and neurodevelopment...
- Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalingElen Griffith
Medical Research Council MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Nat Genet 40:232-6. 2008..These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental pathways determining human brain and body size...
- Comparative genomics and concerted evolution of beta-tubulin paralogs in Leishmania sppAndrew P Jackson
Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK
BMC Genomics 7:137. 2006..infantum and L. braziliensis. Untranscribed regions and coding sequences for each isoform were compared within and between species in relation to the known diversity of beta-tubulin transcripts in Leishmania spp...
- Evolution of primary microcephaly genes and the enlargement of primate brainsChris Ponting
MRC Functional Genetics, University of Oxford, Department of Human Anatomy and Genetics, South Parks Road, Oxford OX1 3QX, UK
Curr Opin Genet Dev 15:241-8. 2005..Further functional characterisation of their proteins will contribute to an understanding of the molecular and evolutionary processes that have determined human brain size...
- Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice
Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
Am J Hum Genet 81:713-25. 2007..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...