1,721,063 research outputs found
Mouse pelota gene (Pelo): cDNA cloning, genomic structure, and chromosomal localization
No full textThe pelota gene of Drosophila melanogaster encodes a protein which is included in cell cycle regulation. Mutations were found to result in spermatogenic arrest, female sterility and disturbances in the patterning of the e e. We have recently isolated and characterized cDNA clones coding for the human pelota gene (PELO). Here we describe the cloning of the murine pelota cDNA and gene (Pelo) that encodes a 385-amino-acid protein. The exon-intron structure of the gene, which contains three exons, was determined. Comparison of the mouse amino acid sequences with the human and Drosophila sequences revealed an overall high identity (96% and 70%, respectively). Northern blot analysis detected a 1.7-kb transcript in all tissues studied. Southern blot analyses revealed that the pelota gene is present as a single copy in the mouse genome. The mouse pelota gene (Pelo) was mapped to the distal end of chromosome 13, in a region that is homologous with a segment of human chromosome 5q11 containing the orthologous human gene. Cloning of the mouse gene is an important step to study the function of the pelota gene in mammals and to create a mouse model for this evolutionarily conserved gene. Copyright (C) 2002 S. Karger AG, Basel
Insulin-like 3 signalling in testicular descent
No full textUndescended testis is one of the most common congenital defects in the newborn boys and the common cause of cryptorchidism. If left untreated, this condition is strongly associated with infertility and drastically increased risk of testicular cancer in adulthood. Testis position in developing males is defined by sexual dimorphic differentiation of two gonadal ligaments, gubernaculum and cranial suspensory ligament. Recent transgenic mouse studies identified testicular hormone insulin-like 3 (INSL3), and its receptor, GREAT/LGR8, as the critical regulators of the gubernacular differentiation. Mutation analysis of the two genes in patients with undescended testis revealed functionally deleterious mutations, which may be responsible for the abnormal phenotype in some of the patients.NICHD NIH HHS [HD36289, HD37067, R01 HD037067, R01 HD037067-04
Molecular cloning, expression and chromosome location of the human pelota gene PELO
No full textThe pelota gene of Drosophila melanogaster encodes a protein that was found to be included in cell cycle regulation. Mutations were found to result in spermatogenic arrest, female sterility and disturbances in the patterning of the eye. Here we describe the cloning of the human pelota cDNA (PELO) that encodes a 385-amino-acid protein. Southern blot and fluorescence in situ hybridization analyses revealed that PELO is present as a single copy gene in the human genome and is localized on chromosome 5q11.2. Northern blot analysis revealed the presence of a 1.6-kb transcript in all tissues studied and an additional 2.0-kb transcript in testis. Copyright (C) 2000 S.Karger AG, Basel
Cloning, organisation, chromosomal localization and expression analysis of the mouse Prkag1 gene
No full textThe mammalian 5'-AMP-activated protein kinase (AMPK) is a heterotrimeric protein consisting of alpha-, beta- and gamma -subunits. The a-subunit is the catalytic subunit. The non-catalytic subunits AMPK-beta and AMPK-gamma form, together with the catalytic AMPK-alpha, the active kinase complex in mammals and its homologue in yeast. The gene for AMPK-gamma -1 has been designated recently as PRKAG1. We have isolated mouse Prkag1 cDNA from testis (1623 nt) coding for 330 aa and we have shown its ubiquitous expression as a 1.8-kb transcript. A comparison between mouse, rat and human PRKAG1 cDNA and protein sequences shows that the gene is highly conserved among these species with a homology of 96% at the protein level. Southern blot analysis indicates that there is more than one gene for PRKAG in the mouse genome. Prkag1 contains 12 exons with short introns. Analysis of 50 interspecific backcross mice mapped the mouse gene to the distal region of chromosome 15. Copyright (C) 2001 S. Karger AG, Basel
The role of the testicular factor INSL3 in establishing the gonadal position
No full textINSL3, also designated Leydig insulin-like (Ley I-L) or relaxin-like factor (RLF), belongs to the insulin-like hormone superfamily. It is expressed in pre- and postnatal Leydig cells of the testis and in postnatal theca cells of the ovary. This sexual dimorphic pattern of INSL3 expression during development led us to suggest that the INSL3 factor could play an essential role in sexual differentiation, gonadal function and germ cell development. Key insights into the role of INSL3 came from analyses of INSL3 knockout mice. These mice showed impaired development of the gubernaculum ligament, a structure that is believed to mediate transabdominal descent of the testis during male embryogenesis. In double mutant XY-mice lacking INSL3 and a functional androgen receptor, it was demonstrated that both are essential for establishment of the sexual dimorphic position of the gonads through regulation of gubernaculum development and regression of the cranial suspensory ligament (CSL) during fetal life. Defects in this developmental process can cause cryptorchidism in the male, which is a most common disorder of sexual differentiation in human. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved
Disruption of the murine dynein light chain gene Tcte3-3 results in asthenozoospermia
No full textTo elucidate the role of the mouse gene Tcte3 (Tctex2), which encodes a putative light chain of the outer dynein arm of cilia and sperm flagella, we have inactivated this gene in mice using targeted disruption. Breeding of heterozygous males and females resulted in normal litter size; however, we were not able to detect homozygous Tcte3-deficent mice using standard genotype techniques. in fact, our results indicate the presence of at least three highly similar copies of the Tcte3 gene (Tcte3-1, Tcte3-2, and Tcte3-3) in the murine genome. Therefore, quantitative real-time PCR was established to differentiate between mice having one or two targeted Tcte3-3 alleles. By this approach, Tcte3-3(-/-) animals were identified, which were viable and revealed no obvious malformation. Interestingly, some homozygous Tcte3-3-deficient male mice bred with wild-type female produced no offspring while other Tcte3-3-deficient males revealed decreased sperm motility but were fertile. in infertile Tcte3-3(-/-) males, spermatogenesis was affected and sperm motility was reduced, too, resulting in decreased ability of Tcte3-3-deficient spermatozoa to move from the uterus into the oviduct. Impaired flagellar motility is not correlated with any gross defects in the axonemal structure, since outer dynein arms are detectable in sperm of Tcte3-3(-/-) males. However, in infertile males, deficient Tcte3-3 function is correlated with increased apoptosis during male germ cell development, resulting in a reduction of sperm number. Moreover, multiple malformations in developing haploid germ cells are present. Our results support a role of Tcte3-3 in generation of sperm motility as well as in male germ cell differentiation. Reproduction (2010) 139 99-111DFG [NE 756/1-2
Ultra-structure of the sperm head-to-tail linkage complex in the absence of the spermatid-specific LINC component SPAG4
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