Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism

Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. Results: We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH. Conclusion: By means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.

Reinventar la metròpoli: Barcelona i el model de la Greater London Authority

La dècada de 1980 va significar un punt i a part per als governs metropolitans. Després de viure una època daurada durant els 60 i 70, la reestructuració del sistema politicoeconòmic va comportar que les estructures de govern metropolità fossin qüestionades i fins i tot suprimides. Quan tot semblava indicar que restarien només com a record, la lògica de competència entre grans ciutats i la necessitat de reinventar-se en base a un desenvolupament sostenible va suposar un inesperat renaixement de la política metropolitana. Si fins aleshores la seva necessitat s'havia justificat bàsicament des d'un punt de vista funcional, seguint pautes tecnòcrates i burocratitzades, la nova metropolítica se centra en la competitivitat i en la sostenibilitat, alhora que posa èmfasi en assajar mètodes de governança. Londres, ciutat que presenta certs paral·lelismes històrics amb Barcelona, ha estat una ciutat pionera i de la seva experiència es pot aprendre per la capital catalana