# name
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are
                Linked to Brain Expression of MAN2C1 and Children's Intelligence

# metadata.dc.description.abstract[].value
The chromosome bands 15q24.1-15q24.3 contain a complex region
                with numerous segmental duplications that predispose to regional
                microduplications and microdeletions, both of which have been
                linked to intellectual disability, speech delay and autistic
                features. The region may also harbour common inversion
                polymorphisms whose functional and phenotypic manifestations are
                unknown. Using single nucleotide polymorphism (SNP) data, we
                detected four large contiguous haplotype-genotypes at 15q24 with
                Mendelian inheritance in 2,562 trios, African origin, high
                population stratification and reduced recombination rates.
                Although the haplotype-genotypes have been most likely generated
                by decreased or absent recombination among them, we could not
                confirm that they were the product of inversion polymorphisms in
                the region. One of the blocks was composed of three
                haplotype-genotypes (N1a, N1b and N2), which significantly
                correlated with intelligence quotient (IQ) in 2,735 children of
                European ancestry from three independent population cohorts.
                Homozygosity for N2 was associated with lower verbal IQ
                (2.4-point loss, p-value = 0.01), while homozygosity for N1b was
                associated with 3.2-point loss in non-verbal IQ (p-value =
                0.0006). The three alleles strongly correlated with expression
                levels of MAN2C1 and SNUPN in blood and brain. Homozygosity for
                N2 correlated with over-expression of MAN2C1 over many brain
                areas but the occipital cortex where N1b homozygous highly
                under-expressed. Our population-based analyses suggest that
                MAN2C1 may contribute to the verbal difficulties observed in
                microduplications and to the intellectual disability of
                microdeletion syndromes, whose characteristic dosage increment
                and removal may affect different brain areas.

# metadata.dc.relation.isformatof[].value
Reproducció del document publicat a:
                http://dx.doi.org/10.1371/journal.pone.0157739

# metadata.dc.source[].value
Articles publicats en revistes (ISGlobal)

# metadata.dc.title[].value
Ancient Haplotypes at the 15q24.2 Microdeletion Region Are
                Linked to Brain Expression of MAN2C1 and Children's Intelligence