Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P06889 (Mol)
 630,302 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have used a series of 30 DNA probes previously mapped to the long arm of the human Y chromosome, to screen a panel of 21 patients with structural abnormalities in Yq, by genomic blot hybridisation. The results have allowed us to construct a detailed map of interval 6 of the Y chromosome, in which 28 of the probes could be assigned to 14 sub-intervals within interval 6. Some probes detect two or more loci within this region, each of which has been localised. The same set of probes has been used to screen a panel of 19 chromosomally normal azoospermic men, two of whom have been found to carry microdeletions within this region. With the completion of this map we have been able accurately to localise these microdeletions within interval 6 and show that they do not overlap. We believe these microdeletions may disrupt the azoospermia factor (AZF) involved in spermatogenesis, and which is known to lie in this region. These results are an important step towards the localisation of the AZF locus.
Hum Mol Genet 1992 Apr
PMID:Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. 130 Nov 32

We present an unusual case with bilateral testicular Leydig cell tumors displaying extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase. Histological examination of a 38-yr-old man infertile due to azoospermia showed him to have bilateral testicular Leydig cell tumors. The in vitro steroidogenic potential of the tumors and their adjacent testicular tissue was evaluated using organ culture. Tumor tissue was found to secrete deoxycorticosterone (DOC), corticosterone (B) and cortisol, which are not produced in normal adult testis, into the medium, while testicular tissue adjacent to the tumors secreted a small amount of DOC and B. Northern blot analysis with cytochrome P-450C21 complementary DNA (cDNA) and P-45011 beta cDNA as probes revealed that the tumor contained a considerable amount of mRNA for P-450C21 and P-45011 beta, while the MRNAs were not detected in the testicular tissues adjacent to the tumors. It is suggested that the high local levels of estrogen and/or progesterone within the Leydig cell tumors and their adjacent testicular tissues induced extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by the tumors and their adjacent testicular tissues.
J Steroid Biochem Mol Biol 1991 Dec
PMID:Extraadrenal expression of steroid 21-hydroxylase and 11 beta-hydroxylase by a benign testicular Leydig cell tumor. 175 89

Mouse spermatozoa were obtained from the testis and caput, corpus, and cauda epididymis incubated for 2 h in capacitation medium and a single spermatozoon from the capacitated samples microinjected into the pervitelline space of mature mouse oocytes. Spermatozoa from the testis were unable to fertilize oocytes and few spermatozoa from the caput were capable of fertilization (0-7% depending on the method of preparation). Similar fertilization rates (30-45%) were obtained with spermatozoa with forward progressive motility from the proximal and distal corpus and the cauda epididymis, but those that were vibratory or with local circular motility had significantly reduced fertilizing capacity (6-10%). The capacity of spermatozoa from the different regions of the testis and epididymis to bind to zona-free oocytes followed the same pattern as fertilization rate after microinjection. There was a progressive increase in acrosome reactions after 2 h incubation in capacitation medium in samples obtained from the testis to the cauda epididymis. Maturation of the capacity to bind to the perivitelline membrane and to develop forward progressive motility, rather than the capacity to acrosome react, appears to govern the fertilization of oocytes in which the zona has been bypassed by microinjection. These characteristics are obtained in the proximal segment of the corpus. However, there was evidence that the embryo developmental capacity of oocytes fertilized by spermatozoa from the higher segments of the epididymis is reduced, particularly in oocytes fertilized by caput spermatozoa. These observations suggest that sperm microinjection may have only a limited benefit for improving fertilization rates for men with high epididymal obstructive azoospermia.
Mol Reprod Dev 1991 May
PMID:Fertilizing capacity of epididymal and testicular spermatozoa microinjected under the zona pellucida of the mouse oocyte. 205 85

A survey of the research on gossypol, the lipophilic agent derived from cotton seed already being used as male oral contraceptive in China and Brazil, leaves many questions unanswered as to its mode of action and safety. Gossypol is a polyphenolic dialdehyde, occurring in 2 racemic isomers with different biological activities. It is soluble in lipids, binds to membranes, inhibits several enzymes including arachidonate lipoxygenases, and is an antioxidant. It has been used traditionally to treat bronchitis and to induce abortion and menses, but was only recognized as a male antifertility agent in the 1970s. It is spermicidal, it inhibits sperm motility, and causes azoospermia, at different doses and with marked species variability. There is evidence from China for regional variation in effect, possibly related to genetic factors, or even more likely due to dietary intake. Whether infertility induced by gossypol is reversible is in dispute. The most common toxic side effect is hypokalemia, which is severe enough to cause temporary paralysis in 1% of 8806 volunteers in a study conducted in China. Whether potassium loss can be reversed by supplementation, or by taking potassium-sparing diuretics, has been questioned. Similarly, the extent and permanence of renal damage presumed responsible for potassium loss is uncertain. A suitable animal model for studies on gossypol, either in vivo or in vitro, is unavailable. Studies on the mechanism of action of gossypol suggest structural alterations of cell membranes, inhibition of enzymes and energy metabolism may be affected, but this type of work needs to be refined to pinpoint the site of action.
Mol Reprod Dev 1990 Apr
PMID:Effects of gossypol on the motility of mammalian sperm. 218 32

We analyzed DNA from 63 Japanese men with either azoospermia or severe oligospermia whose Y chromosomes were cytogenetically normal. A total of 16 loci were examined: 15 loci on the long arm between DYS7E and DYZ1, and the YRRM1 locus, a candidate gene for the azoospermic factor, AZF. One patient with a pericentric inversion of the Y chromosome was also included. We detected micro-deletions in ten individuals. The YRRM1 gene was involved in only three of them. The remaining seven patients showed deletion between DYS7C and DYS239 in common, indicating the presence of at least one additional gene, deletion of which causes azoospermia.
Hum Mol Genet 1994 Nov
PMID:PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. 763 61

Using a positional cloning approach, we have isolated a new gene family, the Y-located RNA Recognition Motif genes (YRRM), which constitutes a candidate for AZF, the 'azoospermia factor' located principally within band Yq11.23, and thought to be important in the control of human spermatogenesis. The YRRM gene family has at least 15 members, more than one of which are transcribed, some of which are pseudogenes. RNA in situ hybridization to adult human testis tissue indicates that gene expression of the YRRM family is confined to germ cells, notably spermatogonia and/or primary spermatocytes. Similar patterns of hybridization are seen for a second gene family, TSPY, clustered mainly on the short arm of the human Y chromosome. Both YRRM and TSPY show Y chromosome conservation in several mammalian species.
Hum Mol Genet 1994
PMID:Human male fertility--Y-linked genes and spermatogenesis. 784 36

Turner syndrome is a complex human disorder that generally associates a 45,X karyotype to a female phenotype presenting with gonadal dysgenesis, short stature and a number of characteristic somatic features. It has been hypothesized that this specific phenotype was the consequence of the haploinsufficiency of some X-linked genes having functional homologs on the Y chromosome. Here we describe four patients with deletions of the long arm of their Y chromosome and presenting with azoospermia and with or without Turner stigmata. Analysis of their breakpoints by Southern blotting and Y-specific sequence tagged sites (STS) allows us to delimit a region located in proximal interval 5 of the Y chromosome involved in skeletal development and growth.
Hum Mol Genet 1995 Sep
PMID:Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. 854 40

Using cDNA selection with a YAC from the Xp11.2 region, we have identified a novel gene (RBM3) that encodes a polypeptide with high sequence similarity to a group of proteins that bind to RNA. On a YAC contig map, RBM3 is located between OATL1 and GATA1/TFE3 in sub-band Xp11.23, and gives rise to alternatively spliced transcripts in a variety of human tissues. The longest open reading frame encodes a 157 amino acid protein with a predicted molecular weight of 17 kDa. Its putative RNA-binding domain most closely resembles that of two previously characterized human RNA-binding proteins, YRRM, the gene for which has been implicated in azoospermia, and hnRNP G, a glycoprotein, also identified as an auto-antigen. The homology of RMB3 in both sequence and size to an RNA binding protein from maize, AAIP , suggests that it functions in a fundamental pathway conserved from plants to mammals.
Hum Mol Genet 1995 Dec
PMID:RBM3, a novel human gene in Xp11.23 with a putative RNA-binding domain. 863 3

In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11. In 12 individuals, we observed de novo microdeletions involving several DNA loci, while an additional patient had an inherited deletion. They were mapped to three different subregions in Yq11. One subregion coincides to the AZF region defined recently in distal Yq11. The second and third subregion were mapped proximal to it, in proximal and middle Yq11, respectively. The different deletions observed were not overlapping but the extension of the deleted Y DNA in each subregion was similar in each patient analysed. In testis tissue sections, disruption of spermatogenesis was shown to be at the same phase when the microdeletion occurred in the same Yq11 subregion but at a different phase when the microdeletion occurred in a different Yq11 subregion. Therefore, we propose the presence of not one but three spermatogenesis loci in Yq11 and that each locus is active during a different phase of male germ cell development. As the most severe phenotype after deletion of each locus is azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable phase of function in human spermatogenesis and candidate genes involved will be discussed.
Hum Mol Genet 1996 Jul
PMID:Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. 881 27

Deletion of the 50f2/C (DYS7C) locus in interval 6 of Yq has previously been reported as a polymorphism in three males. We describe a survey of worldwide populations for further instances of this deletion. Of 859 males tested, 55 (approximately 6%) show absence of the 50f2/C locus; duplication of the locus was also detected in eight out of 595 males (approximately 1.4%). Populations having the deletion are confined to Asia, Australasia, and southern and northern Europe; of those of reasonable sample size, Finns had the highest deletion frequency (55%; n = 21). The deletions vary in size and the larger ones remove some of the RBM (RNA Binding Motif) genes, but none of the deletion males lack DAZ (Deleted in AZoospermia), a candidate gene for the azoospermia factor. On a tree of Y haplotypes, 28 deletion and eight duplication chromosomes fall into six and four haplotypic groups respectively, each of which is likely to represent an independent deletion or duplication event. Microsatellite and other haplotyping data suggest the existence of at least two further classes of deletion. Thus duplications and deletions in this region of Yq have occurred many times in human evolution, but remain useful markers for paternal lineages.
Hum Mol Genet 1996 Nov
PMID:Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. 892 5


1 2 3 4 5 6 7 8 9 10 Next >>