Identification of Genetic Variation in the 5′ and 3′ Non-coding Regions of the Protamine Genes in Patients with Protamine Deregulation

Hammoud, Saher Sue; Emery, Benjamin R.; Aoki, Vincent W.; Carrell, Douglas T.

doi:10.1080/01485010701569890

Cited by 15 publications

(21 citation statements)

References 53 publications

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“…Two changes were identified in the 3¢ untranslated region. The variant c.153*96 A > G was reported previously (Tanaka et al, 2003;Hammoud et al, 2007) as a rare variant present in infertile patients and fertile controls and our data are consistent with this hypothesis. The other variant, c.153*4 T > A, is a newly identified SNP detected in an infertile asthenoteratozoospermic patient.…”

Section: Resultssupporting

confidence: 96%

“…In accordance with these inclusion criteria, the studies by Hammoud et al (2007) and Gázquez et al (2008) were excluded because they only studied the protamine 1 promoter region. The study by Tüttelmann et al (2010) was also excluded because it did not include fertile controls.…”

Section: Meta-analysis Of the Protamine 1 R34s Mutationmentioning

confidence: 98%

“…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%

“…The sequences of the primers used have been previously described (Tanaka et al, 2003;Hammoud et al, 2007). The PCR conditions were as follows: 96°C for 5 min followed by 35 cycles of 96°C for 30 s, annealing temperature for 30 s (P1: 62°C; P2: 56°C), base extension at 72°C (P1: 1 min; P2: 5 min) and a final extension of 5 min at 72°C.…”

Section: Sequencing Of the Protamine 1 And 2 Genesmentioning

confidence: 99%

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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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Section: Resultssupporting

confidence: 96%

Section: Meta-analysis Of the Protamine 1 R34s Mutationmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 95%

Section: Sequencing Of the Protamine 1 And 2 Genesmentioning

confidence: 99%

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

et al. 2010

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“…Increased sperm DNA fragmentation, reduced sperm count and motility, abnormal morphology [Cho et al 2001] [ Aoki et al 2006;Gazquez et al 2008;Hammoud et al 2007;Iguchi et al 2006;Imken et al 2009;Tanaka et al 2003] PRM2…”

Section: Prm1mentioning

confidence: 99%

The Use of Transgenic Mouse Models in the Study of Male Infertility

Tamowski

Aston

Carrell

2010

Systems Biology in Reproductive Medicine

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Over the past few decades with the rapid advances in embryo and embryonic stem cell manipulation techniques, transgenic mouse models have emerged as a powerful tool for the study of gene function and complex diseases including male infertility. In this review we give a brief history of the development of tools for the production of transgenic mouse models. This spans the advances from early pronuclear injection to the use of targeted embryonic stem cells to produce gene targeted, conditional, and inducible knockout mouse models. Lastly we provide a few examples to illustrate the utility of mouse models in the study of male infertility.

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The Sperm Epigenome: Implications for the Embryo

Gannon

Emery

Jenkins

et al. 2013

Advances in Experimental Medicine and Biology

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Recent advances, including the human genome project and numerous studies of cancer and other diseases, have shown that the genetic code is not simply limited to the sequence of the four bases of DNA but also includes epigenetic programming, heritable changes that affect gene expression [Riggs A, Martinssen R, Russo V (2007) Introduction. In: Riggs A, Martinssen R, Russo V (eds) Epigenetics mechanisms of gene regulation. Cold Spring Harbor Press, New York]. The science of epigenetics is important in understanding many diseases and biological processes, including in identifying the causes of disease and better understanding the mechanisms by which the environment can affect gene expression [Carrell Fertil Steril 97 (2):267-274, 2012]. This chapter will focus on the epigenome of sperm and particularly highlight the potential role of the sperm epigenome in embryogenesis.The sperm epigenome is unique and highly specialized because of the unique nature and function of sperm and because of the diverse requirements for successful fertilization. Due to the need for motility, sperm chromatin must be compacted and highly organized. During spermiogenesis the chromatin is packaged tightly into the sperm head by the replacement of most histones with protamines. This allows for protection of the DNA from the hostile environment in the female reproductive tract. Remaining histones can have chemical modifications to the tails of the protein that either facilitate or repress gene transcription. Sperm, like embryonic stem cells, have a unique pattern of histone modifications that includes both activating and silencing marks in the promoters of genes associated with development. These bivalent marks, along with DNA hypomethylation, comprise a unique state in which the key genes are "poised" for possible activation in embryogenesis. Sperm epigenetic abnormalities have been linked with multiple diseases including male factor infertility and poor embryogenesis.

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Identification of Genetic Variation in the 5′ and 3′ Non-coding Regions of the Protamine Genes in Patients with Protamine Deregulation

Cited by 15 publications

References 53 publications

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

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

The Use of Transgenic Mouse Models in the Study of Male Infertility

The Sperm Epigenome: Implications for the Embryo

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