Low-frequency protamine 1 gene transversions c.102GT and c.–107GC do not correlate with male infertility.
E. Kichine
(1)
,
Said Msaidie
(1, 2)
,
Amelia D. Bokilo
(2)
,
Axel Ducourneau
(1, 2)
,
A. Navarro
(1)
,
Nicolas Lévy
(1, 3)
,
P. Terriou
(4)
,
P. Collignon
(5)
,
Gilles Boetsch
(2)
,
Jacques Chiaroni
(2, 6)
,
Michael J. Mitchell
(1)
1
GMGF -
Génétique Médicale et Génomique Fonctionnelle
2 UAABC - Anthropologie Bio-Culturelle
3 Département de génétique médicale [Hôpital de la Timone - APHM]
4 Institut de Médecine de la Reproduction
5 Service de Génétique
6 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
2 UAABC - Anthropologie Bio-Culturelle
3 Département de génétique médicale [Hôpital de la Timone - APHM]
4 Institut de Médecine de la Reproduction
5 Service de Génétique
6 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
Nicolas Lévy
- Fonction : Auteur
- PersonId : 17086
- IdHAL : nicolas-levy
- ORCID : 0000-0001-5171-6365
- IdRef : 070193355
Gilles Boetsch
- Fonction : Auteur
- PersonId : 742328
- IdHAL : gilles-boetsch
- IdRef : 050125214
Jacques Chiaroni
- Fonction : Auteur
- PersonId : 748906
- IdHAL : jacques-chiaroni
- ORCID : 0000-0002-3133-8990
Michael J. Mitchell
- Fonction : Auteur
- PersonId : 14622
- IdHAL : michael-mitchell
- ORCID : 0000-0003-2052-7347
- IdRef : 070302480
Résumé
Iguchi et al,1 and Ravel et al.2 have proposed that, in the heterozygous state, the c.102GT and the c.-107GC transversions in the protamine 1 gene (PRM1), could be causes of human male infertility. Deleterious mutations in one allele of the human PRM1 gene are reasonably expected to have a dominant negative effect on male fertility, because in the mouse, germ cells carrying one null Prm1 allele do not produce viable gametes.3 In human PRM1 studies,1 2 however, several infertile men carried one of the two transversions, evoking the possibility of founder effects and therefore efficient transmission. To explore this apparent paradox, we screened 1195 infertile and control men for these two transversions, and conclude that neither has a significant effect on male fertility.
Format du dépôt | Notice |
---|---|
Type de dépôt | Autre publication scientifique |
Titre |
en
Low-frequency protamine 1 gene transversions c.102GT and c.–107GC do not correlate with male infertility.
|
Résumé |
en
Iguchi et al,1 and Ravel et al.2 have proposed that, in the heterozygous state, the c.102GT and the c.-107GC transversions in the protamine 1 gene (PRM1), could be causes of human male infertility. Deleterious mutations in one allele of the human PRM1 gene are reasonably expected to have a dominant negative effect on male fertility, because in the mouse, germ cells carrying one null Prm1 allele do not produce viable gametes.3 In human PRM1 studies,1 2 however, several infertile men carried one of the two transversions, evoking the possibility of founder effects and therefore efficient transmission. To explore this apparent paradox, we screened 1195 infertile and control men for these two transversions, and conclude that neither has a significant effect on male fertility.
|
Auteur(s) |
E. Kichine
1
, Said Msaidie
1, 2
, Amelia D. Bokilo
2
, Axel Ducourneau
1, 2
, A. Navarro
1
, Nicolas Lévy
1, 3
, P. Terriou
4
, P. Collignon
5
, Gilles Boetsch
2
, Jacques Chiaroni
2, 6
, Michael J. Mitchell
1
1
GMGF -
Génétique Médicale et Génomique Fonctionnelle
( 46221 )
- Faculté de Médecine - 27 boulevard Jean Moulin 13385 Marseille Cedex 05
- France
2
UAABC -
Anthropologie Bio-Culturelle
( 942 )
- Faculté de Médecine - Secteur Nord Batiment A - CS80011 Bd Pierre Dramard 13344 MARSEILLE Cedex 15 FRANCE
- France
3
Département de génétique médicale [Hôpital de la Timone - APHM]
( 223602 )
- Hôpital de la Timone
264, rue Saint Pierre 13385 Marseille Cedex 5
- France
4
Institut de Médecine de la Reproduction
( 59533 )
- 13008 Marseille, France
- France
5
Service de Génétique
( 59534 )
- Centre Hospitalier de Toulon, 83056 Toulon, France
- France
6
EFS - Alpes-Méditerranée -
Etablissement Français du Sang - Alpes-Méditerranée
( 121596 )
- 149 bd Baille 13385, Marseille
- France
|
Vulgarisation |
Non
|
Langue du document |
Anglais
|
Audience |
Non spécifiée
|
Date de publication |
2008
|
Description |
Note/ Correspondenc dans J. Med. Genet.
|
Commentaire |
Correspondence in Journal of Medical Genetics 2008 vol. 45 n°4
|
Domaine(s) |
|
Mots-clés |
en
human male infertility
|
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