Identification of a Testis-Specific Gene (C15orf2) in the Prader–Willi Syndrome Region on Chromosome 15

Färber, Claudia; Groß, Stephanie; Neesen, Jürgen; Buiting, Karin; Horsthemke, Bernhard

doi:10.1006/geno.2000.6158

Cited by 42 publications

(25 citation statements)

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“…NPAP1 is a single-exon gene coding for a nuclear pore complex protein (Neumann et al 2012). The function and regulation of NPAP1 is of relevance to human disease as it lies in the imprinted critical region of the Prader-Willi syndrome (Farber et al 2000). Also, testis dysfunction has also been associated with the Prader-Willi syndrome (e.g., Katcher et al 1977;Siemensma et al 2012).…”

Section: Most Abundant Sperm Pirnas Target Line1 Transposonsmentioning

confidence: 99%

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

Pantano

Jodar

Bak

et al. 2015

RNA

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At the end of mammalian sperm development, sperm cells expel most of their cytoplasm and dispose of the majority of their RNA. Yet, hundreds of RNA molecules remain in mature sperm. The biological significance of the vast majority of these molecules is unclear. To better understand the processes that generate sperm small RNAs and what roles they may have, we sequenced and characterized the small RNA content of sperm samples from two human fertile individuals. We detected 182 microRNAs, some of which are highly abundant. The most abundant microRNA in sperm is miR-1246 with predicted targets among spermspecific genes. The most abundant class of small noncoding RNAs in sperm are PIWI-interacting RNAs (piRNAs). Surprisingly, we found that human sperm cells contain piRNAs processed from pseudogenes. Clusters of piRNAs from human testes contain pseudogenes transcribed in the antisense strand and processed into small RNAs. Several human protein-coding genes contain antisense predicted targets of pseudogene-derived piRNAs in the male germline and these piRNAs are still found in mature sperm. Our study provides the most extensive data set and annotation of human sperm small RNAs to date and is a resource for further functional studies on the roles of sperm small RNAs. In addition, we propose that some of the pseudogene-derived human piRNAs may regulate expression of their parent gene in the male germline.

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Section: Most Abundant Sperm Pirnas Target Line1 Transposonsmentioning

confidence: 99%

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

Pantano

Jodar

Bak

et al. 2015

RNA

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“…2,3 In 2000 we identified C15orf2, which is a 7.5 kb intronless gene located B300 kb upstream of the major SNURF -SNRPN start site. 4 C15orf2 has a 3.5 kb open reading frame encoding an 1156 amino-acid protein of unknown function. Recently we have identified two novel genes (PWRN1 and PWRN2), which are located centromeric to C15orf2 5 and which do not appear to have any protein-coding potential.…”

Section: Introductionmentioning

confidence: 99%

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

et al. 2009

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The imprinted domain in human 15q11-q13 is controlled by a bipartite imprinting centre (IC), which overlaps the 5 0 part of the paternally expressed SNURF -SNRPN gene. We have recently described two novel genes upstream of SNURF-SNRPN (PWRN1 and PWRN2), which are biallelically expressed in the testis. We have now found that PWRN1 represents an alternative 5 0 part of SNURF -SNRPN, and that its expression in the brain is imprinted. To determine when the locus is activated during spermatogenesis and which factors are involved in this process, we have mined gene-expression data of testicular biopsies from men with different types of spermatogenic failure. Whereas PWRN1-SNURF-SNRPN and PWRN2 are expressed in post-meiotic germ cells only, a hitherto undetected SNURF-SNRPN upstream transcript is expressed already at meiosis. Several epigenetic factors (eg, MBD1 and MBD2 isoforms, MBD3L1, SUVH39H2, BRDT, and EZH2) are upregulated at specific stages of spermatogenesis, suggesting that they play an important role in the epigenetic reprogramming during spermatogenesis.

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“…Either gene methylation on the maternal allele or demethylation-maintenance at the paternal allele requires specific targeting signals, because at least one known gene (C15orf2) within the PWS/AS-region escapes imprinting. As expected by this model, it could be shown that C15orf2 is unmethylated in sperm, but becomes methylated post-fertilization [75].…”

Section: Imprinting Consequences For the Mammalian Brainmentioning

confidence: 50%

“…One gene, the intronless C15orf2 (see Figure 1) , located within the imprinted region on 15q11-12 is of special interest [75]. It is the only known gene in the PWS-region that is exclusively transcribed in testis.…”

Section: Other Genes That May Contribute To the Pws Phenotypementioning

confidence: 99%

“…It is associated with a CpG island, which is methylated in all tissues, except for germ cells. Remarkably, it escapes imprinting and is biallelically expressed, probably because it integrated into the imprinted domain late during evolution and therefore lacks cis-acting elements that mediate parent-specific de novo methylation in imprinted genes [75,76]. Nevertheless, it is likely that C15orf2 plays a role in primate spermatogenesis and that defects in this gene may contribute to male infertility in PWS.…”

Section: Other Genes That May Contribute To the Pws Phenotypementioning

confidence: 99%

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Mechanisms and brain specific consequences of genomic imprinting in Prader-Willi and Angelman syndromes

Schumacher

2001

Gene Funct. Dis.

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Identification of a Testis-Specific Gene (C15orf2) in the Prader–Willi Syndrome Region on Chromosome 15

Cited by 42 publications

References 50 publications

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis

Mechanisms and brain specific consequences of genomic imprinting in Prader-Willi and Angelman syndromes

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