Characterization and Phylogenetic Utility of the Mammalian Protamine P1 Gene

Bussche, Ronald A. Van Den; Hoofer, Steven R.; Hansen, Eric W.

doi:10.1006/mpev.2001.1051

Cited by 20 publications

(9 citation statements)

References 47 publications

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“…Conflicting results have been reported using complete mitochondrial genome sequences to infer phylogenetic relationships with support for a sister relationship between Chiroptera and Fereungulata (Carnivora, Pholidota, Perissodactyla and Cetartiodactyla) or a relationship between Chiroptera and Eulipotyphla [28-30]. Analysis of the nuclear gene, protamine P1, as well as large genomic datasets, has provided evidence that bats are sister to a clade containing Perissodactyla, Carnivora, and Cetartiodactyla [31,32]. The volume of sequence data generated by transcriptome sequencing provides the opportunity for larger scale sequence comparisons than previously possible using the few full length bat genes available or by comparison with the limited whole genome sequence data.…”

Section: Resultsmentioning

confidence: 99%

The immune gene repertoire of an important viral reservoir, the Australian black flying fox

et al. 2012

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BackgroundBats are the natural reservoir host for a range of emerging and re-emerging viruses, including SARS-like coronaviruses, Ebola viruses, henipaviruses and Rabies viruses. However, the mechanisms responsible for the control of viral replication in bats are not understood and there is little information available on any aspect of antiviral immunity in bats. Massively parallel sequencing of the bat transcriptome provides the opportunity for rapid gene discovery. Although the genomes of one megabat and one microbat have now been sequenced to low coverage, no transcriptomic datasets have been reported from any bat species. In this study, we describe the immune transcriptome of the Australian flying fox, Pteropus alecto, providing an important resource for identification of genes involved in a range of activities including antiviral immunity.ResultsTowards understanding the adaptations that have allowed bats to coexist with viruses, we have de novo assembled transcriptome sequence from immune tissues and stimulated cells from P. alecto. We identified about 18,600 genes involved in a broad range of activities with the most highly expressed genes involved in cell growth and maintenance, enzyme activity, cellular components and metabolism and energy pathways. 3.5% of the bat transcribed genes corresponded to immune genes and a total of about 500 immune genes were identified, providing an overview of both innate and adaptive immunity. A small proportion of transcripts found no match with annotated sequences in any of the public databases and may represent bat-specific transcripts.ConclusionsThis study represents the first reported bat transcriptome dataset and provides a survey of expressed bat genes that complement existing bat genomic data. In addition, these data provide insight into genes relevant to the antiviral responses of bats, and form a basis for examining the roles of these molecules in immune response to viral infection.

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Section: Resultsmentioning

confidence: 99%

The immune gene repertoire of an important viral reservoir, the Australian black flying fox

et al. 2012

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“…For the purpose of the present study, the monophyly of mormoopids, and of Mormoops and Pteronotus , will be assumed because this is the best‐supported conclusion given all the evidence at hand (Table 3, Figs 4, 5). For two nuclear exons that do not support mormoopid monophyly, see Van Den Bussche, Hoofer & Hanson (2002a) and Van Den Bussche et al (2003).…”

Section: Resultsmentioning

confidence: 99%

The geography of diversification in the mormoopids (Chiroptera: Mormoopidae)

Dávalos

2006

Biological Journal of the Linnean Society

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The traditional explanation of the distribution of the Mormoopidae is that this family originated in southern Central America or northern South America, later expanding its range north to Mexico and the West Indies, and differentiating into eight species. An alternative fossil-based hypothesis argues that the family originated in the northern Neotropics, reached the Caribbean early in its history, and dispersed to South America after the completion of the Isthmus of Panama. The present study analyses new and previously published sequence data from the mitochondrial 12S, tRNA val , 16S, and cytochrome b , and the nuclear Rag 2, to evaluate species boundaries and infer relationships among extant taxa. Fixed differences in cytochrome b often coincide with published morphological characters and show that the family contains at least 13 species. Two additional, morphologically indistinct, lineages are restricted to Suriname and French Guiana. Phylogeny-based inferences of ancestral area are equivocal on the geographical origin of mormoopids, in part because several internal nodes are not resolved with the available data. Divergences between Middle American and Antillean populations are greater than those between Mexico/Central America and South America. This suggests that mormoopids diversified in northern Neotropics before entering South America. A northern neotropical origin for mormoopids is congruent with both the Tertiary fossil record and recent phylogenetic hypotheses for the sister family to the Mormoopidae, the Phyllostomidae.

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“…Indeed, many different studies have demonstrated the presence of an altered expression of protamines in some infertile patients (Balhorn et al, 1988;Bach et al, 1990;Blanchard et al, 1990;Belokopytova et al, 1993;de Yebra et al, , 1998Bench et al, 1998;Mengual et al, 2003;Aoki et al, 2005Aoki et al, , 2006aMitchell et al, 2005;Oliva, 2006;Torregrosa et al, 2006;Carrell et al, 2007;de Mateo et al, 2008;Steger et al, 2008;de Mateo et al, 2010). Furthermore, it has been shown in mice that protamine or transition protein haplo-insufficiency results in infertility, abnormal chromatin packaging, DNA damage and altered sperm morphology (Cho et al, 2001; in infertile patients in search of mutations in the protamine genes that could explain the abnormalities found in protamine expression Queralt et al, , 1995Schlicker et al, 1994;Schnulle et al, 1994;Kramer et al, 1997;Adroer & Oliva, 1998;Van Den Bussche et al, 2002;Tanaka et al, 2003;Aoki et al, 2006a;Iguchi et al, 2006;Hammoud et al, 2007;Ravel et al, 2007;Gázquez et al, 2008;Kichine et al, 2008;Imken et al, 2009;Tüttelmann et al, 2010). We initiated the present work to perform a review of the literature of all mutations and polymorphisms reported so far and to contribute further with additional data by performing a mutational study of the protamine 1 and 2 genes in the Spanish and Swedish populations.…”

Section: Introductionmentioning

confidence: 95%

“…Furthermore, it has been shown in mice that protamine or transition protein haplo-insufficiency results in infertility, abnormal chromatin packaging, DNA damage and altered sperm morphology (Cho et al, 2001;Zhao et al, 2004;Suganuma et al, 2005). Therefore, many different groups have performed mutational studies in infertile patients in search of mutations in the protamine genes that could explain the abnormalities found in protamine expression Queralt et al, , 1995Schlicker et al, 1994;Schnulle et al, 1994;Kramer et al, 1997;Adroer & Oliva, 1998;Van Den Bussche et al, 2002;Tanaka et al, 2003;Aoki et al, 2006a;Iguchi et al, 2006;Hammoud et al, 2007;Ravel et al, 2007;Gázquez et al, 2008;Kichine et al, 2008;Imken et al, 2009;Tüttelmann et al, 2010). We initiated the present work to perform a review of the literature of all mutations and polymorphisms reported so far and to contribute further with additional data by performing a mutational study of the protamine 1 and 2 genes in the Spanish and Swedish populations.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes

et al. 2010

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Protamines are the most abundant nuclear proteins and alterations in their expression have been described in infertile patients. Also, protamine haplo-insufficient mice have been described as infertile. Therefore, the protamine 1 and 2 genes have been considered important candidates in different mutational studies. In this article, we review all published articles related to protamine gene mutations and report new data on mutations from patients and controls drawn from the Spanish and Swedish populations. Sequencing of the protamine 1 and 2 genes in a total of 209 infertile patients and 152 fertility-proven controls from the Spanish and Swedish populations identified two novel and rare non-pathogenic missense mutations (R17C and R38M) in the protamine 1 gene and several additional polymorphisms. Furthermore, we have identified and we report for the first time five novel rare haplotypes encompassing the protamine 1 and 2 genes. A review of all available protamine gene mutational studies indicates that none of the reported missense mutations can be considered of proven pathogenicity. However, it is interesting to note that rare protamine 1 promoter variants have been reported only in infertile patients, but not in fertile control groups. Pathogenic high penetrance protamine gene missense mutations, if any, must be extremely rare. However, the detected presence of rare variants and haplotypes in infertile patients deserves further investigation.

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Characterization and Phylogenetic Utility of the Mammalian Protamine P1 Gene

Cited by 20 publications

References 47 publications

The immune gene repertoire of an important viral reservoir, the Australian black flying fox

The immune gene repertoire of an important viral reservoir, the Australian black flying fox

The geography of diversification in the mormoopids (Chiroptera: Mormoopidae)

Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes

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