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PMID:15051954

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Citation

Nayernia, K, Meinhardt, A, Drabent, B, Adham, IM, Müller, C, Steckel, M, Sancken, U and Engel, W (2003) Synergistic effects of germ cell expressed genes on male fertility in mice. Cytogenet. Genome Res. 103:314-20

Abstract

Over 200 genes have been shown to be associated with infertility in mouse models. However, knockout mice reveal unexpected functional redundancy of some germ cell expressed genes. Single null mutations in mouse genes encoding four male germ cell proteins, transition protein 2 (Tnp2), proacrosin (Acr), histone H1.1 (H1.1), histone H1t (H1t) and sperm mitochondria-associated cysteine-rich protein (Smcp) have been generated and analysed. Tnp2 is believed to participate in the removal of the nuclear histones and initial condensation of the spermatid nucleus. Proacrosin is an acrosomal protease synthesized as a proenzyme and activated into acrosin during the acrosome reaction. The linker histone subtype H1.1 belongs to the group of main-type histones and is synthesized in somatic tissues as well as in germ cells during the S-phase of the cell cycle. The histone gene Hist1h1t is expressed exclusively in spermatocytes and may have a function in establishing an open chromatin structure for the replacement of histones by transition proteins and protamines. Sperm mitochondria-associated cysteine-rich protein (Smcp) is a major structural element of the mitochondria in the midpiece of the sperm tail. Male mutant mice lacking any of these proteins show no apparent defects in spermatogenesis or fertility. To examine the synergistic effects of these proteins in spermatogenesis and during fertilization four lines of double knockout mice Hist1h1a/Mcsp, Hist1h1t/Mcsp, Tnp2/Mcsp and Acr/Mcsp were established. It was found that even when knockout mice are heterozygous for one allele (-/+) and homozygous for the other allele (-/-), mice were subfertile. Homozygous double knockout mice of all four lines are nearly infertile. However, in the four homozygous double knockout mouse lines, different characteristic abnormalities are prominently manifested: In Hist1h1a-/-/Mcsp-/- the migration of spermatozoa is disturbed in female genital tract, in Hist1h1t-/-/Mcsp-/- spermatozoa show morphological head abnormalities, in Tnp2-/-/Mcsp-/- the motility of sperm is affected, and in Acr-/-/Mcsp-/- the sperm-oocyte interaction is impaired. These findings indicate strongly that male germ cell expressed genes have synergistic effects on male fertility.

Links

PubMed Online version:76819

Keywords

Acrosin/genetics; Acrosin/metabolism; Animals; Embryonic and Fetal Development; Enzyme Precursors/genetics; Enzyme Precursors/metabolism; Female; Fertility; Fertilization; Gene Expression; Histones/genetics; Histones/metabolism; Infertility, Male/etiology; Male; Mice; Mice, Knockout; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; Sperm Motility; Spermatogenesis; Spermatozoa/cytology; Spermatozoa/metabolism; Testis/cytology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:STP2

acts_upstream_of_or_within

GO:0030317: flagellated sperm motility

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96945

P

Seeded From UniProt

complete

MOUSE:MCSP

acts_upstream_of_or_within

GO:0007341: penetration of zona pellucida

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:87884

P

Seeded From UniProt

complete

MOUSE:ACRO

acts_upstream_of_or_within

GO:0007341: penetration of zona pellucida

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96945

P

Seeded From UniProt

complete

MOUSE:H11

acts_upstream_of_or_within

GO:0007283: spermatogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96945

P

Seeded From UniProt

complete

MOUSE:H1T

acts_upstream_of_or_within

GO:0007283: spermatogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:96945

P

Seeded From UniProt

complete

See also

References

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