Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis

Bettoni, Fabiana; Filho, Fernando Camargo; Grosso, D.; Galante, Pedro A. F.; Parmigiani, Raphael B.; Geraldo, Murilo Vieira; Henrique-Silva, Flávio; Oba-Shinjo, Sueli Mieko; Marie, Suely Kazue Nagahashi; Soares, Fernando Augusto; Brentani, Helena; Simpson, Andrew J.G.; Souza, Sandro J. de; Camargo, Anamaria A.

doi:10.1016/j.ygeno.2009.06.001

Cited by 23 publications

(15 citation statements)

References 44 publications

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“…The genomewide significant signals we observed are located within an EST (EF537581) that has not been well-characterized. This EST does not appear to be brain-expressed (47), making it an implausible candidate for BPII disorder. The nearest gene to the associated SNPs is ADM , the gene encoding adrenomedullin.…”

Section: Discussionmentioning

confidence: 99%

Cross-Disorder Genomewide Analysis of Schizophrenia, Bipolar Disorder, and Depression

Huang

Perlis²,

Lee³

et al. 2010

AJP

190

127

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Background Family and twin studies indicate substantial overlap of genetic influences on psychotic and mood disorders. Linkage and candidate gene studies have also suggested overlap across schizophrenia (SCZ), bipolar disorder (BPD), and major depressive disorder (MDD). The objective of this study was to apply genomewide association study (GWAS) analysis to address the specificity of genetic effects on these disorders. Method We combined GWAS data from three large effectiveness studies of SCZ (CATIE, genotyped n = 741), BPD (STEP-BD, n = 1575) and MDD (STAR*D, n= 1938) and psychiatrically-screened controls (NIMH-GI controls, n = 1204). We applied a two-stage analytic procedure involving an omnibus test of allele frequency differences among case and control groups followed by a model selection step to identify the best-fitting model of allelic effects across disorders. Results The strongest result was seen for a single nucleotide polymorphism near the adrenomedullin (ADM) gene (rs6484218, p = 3.93 × 10−8), with the best-fitting model indicating that the effect is specific to bipolar II disorder. We also observed evidence suggesting that several genes may have effects that transcend clinical diagnostic boundaries including variants in NPAS3 that showed pleiotropic effects across SCZ, BPD, and MDD. Conclusions This study provides the first genomewide significant evidence implicating variants near the ADM gene on chromosome 11p15 in psychopathology, with effects that appear to be specific to bipolar II disorder. Although we do not detect genomewide significant evidence of cross-disorder effects, our study provides evidence that there are both pleiotropic and disorder-specific effects on major mental illness and illustrates an approach to dissecting the genetic basis of mood and psychotic disorders that can inform future large-scale cross-disorder GWAS analyses.

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Section: Discussionmentioning

confidence: 99%

Cross-Disorder Genomewide Analysis of Schizophrenia, Bipolar Disorder, and Depression

Huang

Perlis²,

Lee³

et al. 2010

AJP

190

127

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“…Fam46d is a protein of unknown function. However, it is a proposed cancer-testis antigen [78], and homology and protein-protein interaction studies suggest FAM46 family proteins may be crucial for cellular signaling and potentially involved in the TGF-β signaling pathway [79–81]. Importantly, Fam46d probes were included in an RNA expression microarray screen of lymphoblastoid cells from a population of humans with fragile X also meeting the criteria for autism, and Fam46d was found to be upregulated [41].…”

Section: Discussionmentioning

confidence: 99%

Multiple autism-like behaviors in a novel transgenic mouse model

Hamilton

Spencer

Harrison

et al. 2011

Behavioural Brain Research

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Autism spectrum disorder (ASD) diagnoses are behaviorally-based with no defined universal biomarkers, occur at a 1:110 ratio in the population, and predominantly affect males compared to females at approximately a 4:1 ratio. One approach to investigate and identify causes of ASD is to use organisms that display abnormal behavioral responses that model ASD-related impairments. This study describes a novel transgenic mouse, MALTT, which was generated using a forward genetics approach. It was determined that the transgene integrated within a noncoding region on the X chromosome. The MALTT line exhibited a complete repertoire of ASD-like behavioral deficits in all three domains required for an ASD diagnosis: reciprocal social interaction, communication, and repetitive or inflexible behaviors. Specifically, MALTT male mice showed deficits in social interaction and interest, abnormalities in pup and juvenile ultrasonic vocalization communications, and exhibited a repetitive stereotypy. Abnormalities were also observed in the domain of sensory function, a secondary phenotype prevalently associated with ASD. Mapping and expression studies suggested that the Fam46 gene family may be linked to the observed ASD-related behaviors. The MALTT line provides a unique genetic model for examining the underlying biological mechanisms involved in ASD-related behaviors.

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“…2,3) Many genes which were crucial for spermatogenesis and male fertility are often exclusively expressed in male germ cells. Some testis-specific genes have been screened including FAM46D, 4) Adam31, 5) PDHA2, 6) TEX101 and SPATA19, 7) etc. which have been proven to play critical roles in the process of spermatogenesis and steroidogenesis.…”

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confidence: 99%

Comparative and Functional Analysis of Testis-Specific Genes

Liu¹,

Jin²,

Li³

et al. 2011

Biological & Pharmaceutical Bulletin

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The testis is the special male gonad responsible for spermatogenesis and steroidogenesis with complex gene expressions. Characterizing and comparing the testis-specific genes in different species can reveal key genes related to testis specifical functions and provide supplementary information for study of human testis function. We screened testis-specific genes from Unigene libraries, total 317, 449 and 147 testis-specific genes were identified for human, mouse and rat, respectively. Ten from thirteen selected human testis-specific genes were validated exclusively expressed in the testis by reverse transcription polymerase chain reaction (RT-PCR). Systematic bioinformatics analysis showed that specific genes were mainly related to spermatogenesis and testis development process with significant Glycolysis and Pyruvate metabolism. Enrichment functions were discussed.Key words testis; specific; digital differential display Biol. Pharm. Bull. 34(1) 28-35 (2011) © 2011 Pharmaceutical Society of Japan * To whom correspondence should be addressed. e-mail: zxsys008@126.com Colon 7 29584 1 5219 3 5458 Heart 4 19926 8 67542 4 31600 Kidney 6 49568 10 54164 4 24601 Liver 11 72628 6 25033 3 59093 Lung 7 46559 7 40355 2 8065 Muscle 2 6424 2 3031 1 2429 Ovary 4 10862 2 6847 1 4443 Pancreas 1 4308 6 22020 1 16173 Placenta 12 71806 7 21182 2 8475 Prostate 5 63083 0 0 1 9076 Spleen 2 36689 3 46301 1 3629 Stomach 11 36759 4 18360 0 0 Thymus 4 72916 8 93976 0 0 Uterus 5 58541 0 0 0 0 Total 96 783531 74 454582 30 198862 Libraries from 18 organs against testis libraries were used in the digital differential display (DDD) program.

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Identification of FAM46D as a novel cancer/testis antigen using EST data and serological analysis

Cited by 23 publications

References 44 publications

Cross-Disorder Genomewide Analysis of Schizophrenia, Bipolar Disorder, and Depression

Cross-Disorder Genomewide Analysis of Schizophrenia, Bipolar Disorder, and Depression

Multiple autism-like behaviors in a novel transgenic mouse model

Comparative and Functional Analysis of Testis-Specific Genes

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