The contrasting role of heterochromatin in the differentiation of sex chromosomes: an overview from Neotropical fishes

During the evolutionary process of the sex chromosomes, a general principle that arises is that cessation or a partial restriction of recombination between the sex chromosome pair is necessary. Data from phylogenetically distinct organisms reveal that this phenomenon is frequently associated with the accumulation of heterochromatin in the sex chromosomes. Fish species emerge as excellent models to study this phenomenon because they have much younger sex chromosomes compared to higher vertebrates and many other organisms making it possible to follow their steps of differentiation. In several Neotropical fish species, the heterochromatinization, accompanied by amplification of tandem repeats, represents an important step in the morphological differentiation of simple sex chromosome systems, especially in the ZZ/ZW sex systems. In contrast, multiple sex chromosome systems have no additional increase of heterochromatin in the chromosomes. Thus, the initial stage of differentiation of the multiple sex chromosome systems seems to be associated with proper chromosomal rearrangements, whereas the simple sex chromosome systems have an accumulation of heterochromatin. In this review, attention has been drawn to this contrasting role of heterochromatin in the differentiation of simple and multiple sex chromosomes of Neotropical fishes, highlighting their surprising evolutionary dynamism.

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of SaethreChotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. (C) 2012 Wiley Periodicals, Inc.

Gender-based violence and socioeconomic inequalities: Does living in more deprived neighbourhoods increase women's risk of intimate partner violence?

This study investigates the influence of neighbourhood socioeconomic conditions on women's likelihood of experiencing intimate partner violence (IPV) in Sao Paulo, Brazil. Data from 940 women who were interviewed as part of the WHO multi-country study on women's health and domestic violence against women, and census data for Sao Paulo City, were analyzed using multilevel regression techniques. A neighbourhood socioeconomic-level scale was created, and proxies for the socioeconomic positions of the couple were included. Other individual level variables included factors related to partner's behaviour and women's experiences and attitudes. Women's risk of IPV did not vary across neighbourhoods in Sao Paulo nor was it influenced by her individual socioeconomic characteristics. However, women in the middle range of the socioeconomic scale were significantly more likely to report having experienced violence by a partner. Partner behaviours such as excessive alcohol use, controlling behaviour and multiple sexual partnerships were important predictors of IPV. A women's likelihood of IPV also increased if either her mother had experienced IPV or if she used alcohol excessively. These findings suggest that although the characteristics of people living in deprived neighbourhoods may influence the probability that a woman will experience IPV, higher-order contextual dynamics do not seem to affect this risk. While poverty reduction will improve the lives of individuals in many ways, strategies to reduce IPV should prioritize shifting norms that reinforce certain negative male behaviours. (C) 2012 Elsevier Ltd. All rights reserved.

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (C) 2012 Wiley Periodicals, Inc.