Prediction of the Coding Sequences of Unidentified Human Genes. XVIII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro

Nagase, Takahiro; Kikuno, Reiko; Nakayama, Manabu; Hirosawa, Makoto; Ohara, Osamu

doi:10.1093/dnares/7.4.271

Cited by 67 publications

(64 citation statements)

References 16 publications

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“…The transcript encoding this gene has been found to be expressed in the human brain. 32 The CAG repeat lengths at these four loci were estimated in normal controls, bipolar and schizophrenic patients (Figure 2). All the loci studied were polymorphic; the number of alleles and heterozygosity indices of these loci are given in Table 2.…”

Section: Resultsmentioning

confidence: 99%

Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder

et al. 2001

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Chromosome 22 has been implicated in schizophrenia and bipolar disorder in a number of linkage, association and cytogenetic studies. Recent evidence has also implicated CAG repeat tract expansion in these diseases. In order to explore the involvement of CAG repeats on chromosome 22 in these diseases, we have created an integrated map of all CAG repeats Ն5 on this chromosome together with microsatellite markers associated with these diseases using the recently completed nucleotide sequence of chromosome 22. Of the 52 CAG repeat loci identified in this manner, four of the longest repeat stretches in regions previously implicated by linkage analyses were chosen for further study. Three of the four repeat containing loci, were found in the coding region with the CAG repeats coding for glutamine and were expressed in the brain. All the loci studied showed varying degrees of polymorphism with one of the loci exhibiting two alleles of 7 and 8 CAG repeats. The 8-repeat allele at this locus was significantly overrepresented in both schizophrenia and bipolar patient groups when compared to ethnically matched controls, while alleles at the other three loci did not show any such difference. The repeat lies within a gene which shows homology to an androgen receptor related apoptosis protein in rat. We have also identified other candidate genes in the vicinity of this locus. Our results suggest that the repeats within this gene or other genes in the vicinity of this locus are likely to be implicated in bipolar disorder and schizophrenia. Molecular Psychiatry (2001) 6, 694-700.

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Section: Resultsmentioning

confidence: 99%

Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder

et al. 2001

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“…In adult mice and humans, Bcor is widely expressed (Huynh et al, 2000;Nagase et al, 2000). However, these studies are limited in scope, relying on RNA dot blot analysis of human tissues and reverse transcription PCR (RT-PCR) on a limited number of mouse tissues.…”

Section: )mentioning

confidence: 99%

Characterization of Bcor expression in mouse development

Wamstad

Bardwell

2007

Gene Expression Patterns

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Mutation of the gene encoding the transcriptional corepressor BCOR results in the X-linked disorder Oculofaciocardiodental Syndrome (OFCD or MCOPS2). Female OFCD patients suffer from severe ocular, craniofacial, cardiac and digital developmental defects and males do not survive through gestation. BCOR can mediate transcriptional repression by the oncoprotein BCL6 and has the ability to reduce transcriptional activation by AF9, a known mixed-lineage leukemia (MLL) fusion partner. The essential role of BCOR in development and its ability to modulate activity of known oncogenic proteins prompted us to determine the expression profile of Bcor during mouse development. Identification of independently transcribed exons in the 5′ untranslated region of Bcor suggests that three independent promoters control the expression of Bcor in mice. Although Bcor is widely expressed in adult mouse tissues, analysis of known spliced isoforms in the coding region of Bcor reveals differential isoform usage. Whole mount in situ hybridization of mouse embryos shows that Bcor is strongly expressed in the extraembryonic tissue during gastrulation and expression significantly increases throughout the embryo after embryonic turning. During organogenesis and fetal stages Bcor is differentially expressed in multiple tissue lineages, with a notable presence in the developing nervous system. Strikingly, we observed that Bcor expression in the eye, brain, neural tube and branchial arches correlates with tissues affected in OFCD patients.

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“…One of the cDNAs is about 6 kilo base pairs (kbp) in length and potentially encodes about 1800 amino acids, and the other is longer than 7 kbp, encoding more than 2300 amino acids (Hayette et al 2000, Nagase et al 2000, Kuefer et al 2003. They differ in the 3 0 regions of the cDNAs and in carboxyl parts of the proteins, but other parts are almost identical except for a short insertion of a sequence in the latter (Nagase et al 2000, Kuefer et al 2003.…”

Section: Introductionmentioning

confidence: 99%

The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa

Sasao¹,

Itoh²,

Takano³

et al. 2004

Reproduction

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We have previously identified and cloned a human gene, D40, that is preferentially expressed in testis among normal organs, while it is widely expressed in various human tumor cell lines and primary tumors derived from different organs. In this report, we have examined the expression and localization of this protein in human testis with an antibody specific to D40 protein. In Western analyses, the anti-D40 antibody recognized a major band with a molecular mass of 300 kDa and a minor band of 250 kDa. These bands were not observed in the testis lysates from patients with Sertoli-cell-only syndrome and with Kleinfelter syndrome, who lack germ cells of the testis, indicating that D40 protein is expressed in the germ cells of normal testis. Immunohistochemical studies have revealed that D40 protein is highly expressed in spermatocytes and in the pre-acrosome of round spermatids. In the acrosome, D40 protein expression is observed not inside but outside the acrosome membrane. This is consistent with the finding that the amino-acid sequence at the amino terminal of the D40 protein lacks a hydrophobic signal peptide that is required for proteins to translocate to the membrane. Expression of D40 protein is observed in the acrosome of ejaculated spermatozoa as well, although the level is low compared with that in the pre-acrosome of spermatids. These results suggest that D40 protein plays important roles in spermatogenesis, especially in the formation and maintenance of the acrosome.

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Prediction of the Coding Sequences of Unidentified Human Genes. XVIII. The Complete Sequences of 100 New cDNA Clones from Brain Which Code for Large Proteins in vitro

Cited by 67 publications

References 16 publications

Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder

Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder

Characterization of Bcor expression in mouse development

The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa

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