Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.
(2011) In International Journal of Andrology 34(5pt1). p.470-485- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2168619
- author
- Jodar, M ; Oriola, J ; Mestre, G ; Castillo, J ; Giwercman, Aleksander LU ; Vidal-Taboada, J M ; Ballescà, J L and Oliva, R
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- International Journal of Andrology
- volume
- 34
- issue
- 5pt1
- pages
- 470 - 485
- publisher
- Wiley-Blackwell
- external identifiers
-
- wos:000295269600009
- pmid:21029114
- scopus:79956115888
- pmid:21029114
- ISSN
- 1365-2605
- DOI
- 10.1111/j.1365-2605.2010.01115.x
- language
- English
- LU publication?
- yes
- id
- 346b1257-d17a-4eb8-8585-115c620db87b (old id 2168619)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/21029114?dopt=Abstract
- date added to LUP
- 2016-04-04 09:41:14
- date last changed
- 2022-01-29 19:05:00
@article{346b1257-d17a-4eb8-8585-115c620db87b,
abstract = {{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.}},
author = {{Jodar, M and Oriola, J and Mestre, G and Castillo, J and Giwercman, Aleksander and Vidal-Taboada, J M and Ballescà, J L and Oliva, R}},
issn = {{1365-2605}},
language = {{eng}},
number = {{5pt1}},
pages = {{470--485}},
publisher = {{Wiley-Blackwell}},
series = {{International Journal of Andrology}},
title = {{Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.}},
url = {{http://dx.doi.org/10.1111/j.1365-2605.2010.01115.x}},
doi = {{10.1111/j.1365-2605.2010.01115.x}},
volume = {{34}},
year = {{2011}},
}