| About Us |
| PMID | 18390561 |
| Gene Name | PRM1 |
| Condition | Male infertility, abnormal sperm head morphology |
| Association |
Associated |
| Mutation | PRM1 (-190 C-->A) |
| Sex | Male |
| Infertility type | Male infertility |
| Associated genes | PRM1 |
| Other associated phenotypes |
Male infertility, abnormal sperm head morphology |
|
A common protamine 1 promoter polymorphism (-190 C->A) correlates with abnormal sperm morphology and increased protamine P1/P2 ratio in infertile patients Gázquez C, Oriola J, de Mateo S, Vidal-Taboada JM, Ballescŕ JL, Oliva R. It is known that targeting the protamine 1 gene in mice leads to infertility, abnormal chromatin packaging, and abnormal sperm morphology. Because many infertile patients also have an abnormal sperm morphology and chromatin packaging, the human protamine 1 gene (PRM1) is an important candidate to screen for potential mutations. In this work, we have screened the PRM1 gene in search of potential mutations and determined the sperm morphology and the ratio between protamine 1 and protamine 2 (P1/P2 ratio). Direct sequencing of the PRM1 promoter led to the identification of a common single-nucleotide polymorphism (SNP; -190 C-->A). The -190 AA genotype was detected at a higher frequency (13.8%) in patients with markedly altered sperm morphology ( | |