Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31–34

Herzberg, I.; Jasinska, Anna J.; García, Jenny; Jawaheer, Damini; Kremeyer, Bárbara; Duque, Constanza; Parra, María Victoria; Vega, Jorge; Ortiz, Daniel J.; Carvajal, L.; Polanco, Guadalupe; Restrepo, Gloria; López, Carlos A.; Palácio, Carlos; Levinson, Matthew; Aldana, Ileana; Mathews, Carol A.; Davanzo, Pablo; Molina, Julio; Fournier, Eduardo; Bejarano, Julio; Ramirez, Magui; Ortiz, Carmen Araya; Araya, Xinia; Sabatti, Chiara; Reus, Victor I.; Macaya, Gabriel; Bedoya, Gabriel; Ospina, Juan Pablo; Freimer, Nelson B.; Ruiz-Linares, Andrés

doi:10.1093/hmg/ddl254

Cited by 42 publications

(47 citation statements)

References 39 publications

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“…However, the 5q33 region, showing linkage in numerous independent reports (Edenberg et al 1997, Cichon et al, 2001Kelsoe et al, 2001;McInnis et al, 2003;Herzberg et al 2006;Jones et al, 2007) did not show linkage in our sample (p=0.04). Our results for the 20p12 region are consistent with several studies (McInnis et al, 2003;Fallin et al, 2004;Jones et al, 2007;Etain et al, 2009).…”

Section: Discussioncontrasting

confidence: 81%

European collaborative study of early‐onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset

Mathieu

Dizier

Étain

et al. 2010

American J of Med Genetics Pt B

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Bipolar disorder has a genetic component, but the mode of inheritance remains unclear. A previous genome scan conducted in 70 European families led to detect eight regions linked to bipolar disease. Here, we present an investigation of whether the phenotypic heterogeneity of the disorder corresponds to genetic heterogeneity in these regions using additional markers and an extended sample of families. The MLS statistic was used for linkage analyses. The predivided sample test and the maximum likelihood binomial methods were used to test genetic homogeneity between early-onset bipolar type I (cut-off of 22 years) and other types of the disorder (later onset of bipolar type I and early-onset bipolar type II), using a total of 138 independent bipolar-affected sib-pairs. Analysis of the extended sample of families supports linkage in four regions (2q14, 3p14, 16p23, and 20p12) of the eight regions of linkage suggested by our previous genome scan. Heterogeneity testing revealed genetic heterogeneity between early and late-onset bipolar type I in the 2q14 region (P = 0.0001). Only the early form of the bipolar disorder but not the late form appeared to be linked to this region. This region may therefore include a genetic factor either specifically involved in the early-onset bipolar type I or only influencing the age at onset (AAO). Our findings illustrate that stratification according to AAO may be valuable for the identification of genetic vulnerability polymorphisms. (c) 2010 Wiley-Liss, Inc

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Section: Discussioncontrasting

confidence: 81%

European collaborative study of early‐onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset

Mathieu

Dizier

Étain

et al. 2010

American J of Med Genetics Pt B

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“…This locus is associated with BD (Lewis et al, 2003;Hong et al, 2004;Herzberg et al, 2006;Kerner et al, 2007). A recent study demonstrated a significant increase in homozygosity of the minor allele, which contains a single-nucleotide polymorphism in a putative enhancer for the Pcdha gene, in patients with BD (Pedrosa et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Protocadherin-α Family Is Required for Serotonergic Projections to Appropriately Innervate Target Brain Areas

Katori¹,

Hamada²,

Noguchi³

et al. 2009

J. Neurosci.

149

155

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Serotonergic axons from the raphe nuclei in the brainstem project to every region of the brain, where they make connections through their extensive terminal arborizations. This serotonergic innervation contributes to various normal behaviors and psychiatric disorders. The protocadherin-␣ (Pcdha) family of clustered protocadherins consists of 14 cadherin-related molecules generated from a single gene cluster. We found that the Pcdhas were strongly expressed in the serotonergic neurons. To elucidate their roles, we examined serotonergic fibers in a mouse mutant (Pcdha ⌬CR/⌬CR ) lacking the Pcdha cytoplasmic region-encoding exons, which are common to the gene cluster. In the first week after birth, the distribution pattern of serotonergic fibers in Pcdha ⌬CR/⌬CR mice was similar to wild-type, but by 3 weeks of age, when the serotonergic axonal termini complete their arborizations, the distribution of the projections was abnormal. In some target regions, notably the globus pallidus and substantia nigra, the normally even distribution of serotonin axonal terminals was, in the mutants, dense at the periphery of each region, but sparse in the center. In the stratum lacunosum-moleculare of the hippocampus, the mutants showed denser serotonergic innervation than in wild-type, and in the dentate gyrus of the hippocampus and the caudateputamen, the innervation was sparser. Together, the abnormalities suggested that Pcdha proteins are important in the late-stage maturation of serotonergic projections. Further examination of alternatively spliced exons encoding the cytoplasmic tail showed that the A-type (but not the B-type) cytoplasmic tail was essential for the normal development of serotonergic projections.

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“…Moreover, the concerted effect of numerous genes functioning in parallel throughout life would predictably cause the overall aging process to exhibit non-linear dynamics, with stochastic environmental factors providing further modifications of age-dependent processes under real-life conditions. and Scottish subjects [42] and in two Latin-American populations [43] , though not in a Japanese population [44] . The role of enthoprotin in regulating the transport and stability of clathrin-coated vesicles, and its enrichment in brain, suggests that it might be important for recycling of synaptic vesicles [45][46][47] .…”

Section: Agingmentioning

confidence: 93%

Zebrafish as a Genetic Model in Biological and Behavioral Gerontology: Where Development Meets Aging in Vertebrates – A Mini-Review

et al. 2009

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Understanding the molecular mechanisms of aging in vertebrates is a major challenge of modern biology and biomedical science. This is due, in part, to the complexity of the aging process and its multifactorial nature, the paucity of animal models that lend themselves to unbiased high-throughput screening for aging phenotypes, and the difficulty of predicting such phenotypes at an early age. We suggest that the zebrafish genetic model offers a unique opportunity to fill in this gap and contributes to advances in biological and behavioral gerontology. Our recent studies demonstrated that this diurnal vertebrate with gradual senescence is an excellent model in which to study age-dependent changes in musculoskeletal and eye morphology, endocrine factors, gene expression, circadian clock, sleep and cognitive functions. Importantly, we have also found that the presence of a senescence-associated biomarker (‘senescence-associated β-galactosidase’) can be documented during early zebrafish development and is predictive of premature aging phenotypes later in adult life. The availability of mutant ‘genotypes’ with identified aging ‘phenotypes’ in zebrafish, in combination with a wealth of information about zebrafish development and genetics, and the existence of multiple mutant and transgenic lines, should significantly facilitate the use of this outstanding vertebrate model in deciphering the mechanisms of aging, and in developing preventive and therapeutic strategies to prolong the productive life span (‘health span’) in humans.

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Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31–34

Cited by 42 publications

References 39 publications

European collaborative study of early‐onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset

European collaborative study of early‐onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset

Protocadherin-α Family Is Required for Serotonergic Projections to Appropriately Innervate Target Brain Areas

Zebrafish as a Genetic Model in Biological and Behavioral Gerontology: Where Development Meets Aging in Vertebrates – A Mini-Review

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