Detection of mutations and polymorphisms in a candidate male fertility gene by screening infertile patients.

2001 ◽  
Vol 76 (3) ◽  
pp. S99
Author(s):  
E.Y Xu ◽  
D Lee ◽  
P.J Turek ◽  
R.A Reijo Pera
Keyword(s):  
Male Fertility ◽  
Fertility Gene ◽  
Detection Of Mutations ◽  
Infertile Patients

scholarly journals Transcription of gypsy Elements in a Y-Chromosome Male Fertility Gene of Drosqbhila hydei

Genetics ◽  
1996 ◽  
Vol 142 (2) ◽  
pp. 437-446
Author(s):  
Ron Hochstenbach ◽  
Harry Harhangi ◽  
Karin Schouren ◽  
Petra Bindels ◽  
Ron Suijkerbuijk ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Male Fertility ◽  
Fluorescent In Situ Hybridization ◽  
Primary Spermatocyte ◽  
Transcription Unit ◽  
Major Constituent ◽  
Fertility Gene ◽  
Sequence Types ◽  
Gypsy Retrotransposons

Abstract We have found that defective gypsy retrotransposons are a major constituent of the lampbrush loop pair Nooses in the short arm of the Y chromosome of Drosophila hydei. The loop pair is formed by male fertility gene Q during the primary spermatocyte stage of spermatogenesis, each loop being a single transcription unit with an estimated length of 260 kb. Using fluorescent in situ hybridization, we show that throughout the loop transcripts gypsy elements are interspersed with blocks of a tandemly repetitive Y-specific DNA sequence, ay1. Nooses transcripts containing both sequence types show a wide size range on Northern blots, do not migrate to the cytoplasm, and are degraded just before the first meiotic division. Only one strand of ay1 and only the coding strand of gypsy can be detected in the loop transcripts. However, as cloned genomic DNA fragments also display opposite orientations of ay1 and gypsy, such DNA sections cannot be part of the Nooses. Hence, they are most likely derived from the flanking heterochromatin. The direction of transcription of ayl and gypsy thus appears to be of a functional significance.

FERTILITY COMPENSATION OF CORNERSTONE MALE STERILITY OF WHEAT BY RYE

Genetics ◽  
1983 ◽  
Vol 104 (1) ◽  
pp. 181-189
Author(s):  
M A Hossain ◽  
C J Driscoll
Keyword(s):  
Male Sterility ◽  
Male Fertility ◽  
Wheat Chromosome ◽  
Hybrid Wheat ◽  
Specific Expression ◽  
Entire Chromosome ◽  
Chromosome Arm ◽  
Fertility Gene

ABSTRACT The genome of rye is known to compensate for the lost male-fertility gene(s) of wheat chromosome arm 4Aα in the Cornerstone male-sterility mutant. A search for the rye chromosome(s) involved in this compensation showed that chromosomes 2R and 4R are responsible. Only the short arms of these two chromosomes are the operative ones. Chromosome arm 4RS compensates in an erratic way, whereas 2RS compensates in a full and consistent way. The entire chromosome 2R compensates less well than the 2RS telocentric which reflects an antifertility factor(s) on 2RL. This may be a specific expression of the 2R genes for poor vigor which are located on only the long arm. 2RS will be a valuable piece of chromatin for the XYZ system of producing hybrid wheat.

scholarly journals Role of Selective Autophagy in Spermatogenesis and Male Fertility

Cells ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 2523
Author(s):  
Chunyu Lv ◽  
Xiaoli Wang ◽  
Ying Guo ◽  
Shuiqiao Yuan
Keyword(s):  
Male Infertility ◽  
Male Fertility ◽  
Genetic Regulation ◽  
Underlying Mechanism ◽  
Intracellular Pathogens ◽  
Selective Autophagy ◽  
Reproductive Processes ◽  
Infertile Patients ◽  
Shed Light

Autophagy is a “self-eating” process that engulfs cellular contents for their subsequent digestion in lysosomes to engage the metabolic need in response to starvation or environmental insults. According to the contents of degradation, autophagy can be divided into bulk autophagy (non-selective autophagy) and selective autophagy. Bulk autophagy degrades non-specific cytoplasmic materials in response to nutrient starvation while selective autophagy targets specific cargoes, such as damaged organelles, protein aggregates, and intracellular pathogens. Selective autophagy has been documented to relate to the reproductive processes, especially for the spermatogenesis, fertilization, and biosynthesis of testosterone. Although selective autophagy is vital in the field of reproduction, its role and the underlying mechanism have remained unclear. In this review, we focus on selective autophagy to discuss the recent advances in our understanding of the mechanism and role of selective autophagy on spermatogenesis and male fertility in mammals. Understanding the role of selective autophagy during spermatogenesis will promote the recognition of genetic regulation in male infertility, and shed light on therapies of infertile patients.

Gelatinases and their tissue inhibitors are associated with oxidative stress: a potential set of markers connected with male infertility

2016 ◽  
Vol 28 (7) ◽  
pp. 1029 ◽  
Author(s):  
Ewa M. Kratz ◽  
Anna Kałuża ◽  
Mirosława Ferens-Sieczkowska ◽  
Beata Olejnik ◽  
Renata Fiutek ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Seminal Plasma ◽  
Artificial Insemination ◽  
Male Fertility ◽  
Semen Quality ◽  
Reproductive Potential ◽  
Advanced Oxidation Protein Products ◽  
Tissue Inhibitors ◽  
Total Antioxidant ◽  
Infertile Patients

The expression and activity of matrix metalloproteinases (MMPs) may be regulated by oxidative stress in various pathophysiological processes; therefore, the aim of the present study was to analyse the associations between the expression of the gelatinases MMP-9 and MMP-2 and their tissue inhibitors TIMP-1, TIMP-2 and levels of total antioxidant capacity (TAC) and advanced oxidation protein products (AOPP) in seminal plasma prepared for artificial insemination. Levels of MMPs and TIMPs were evaluated using ELISA, whereas TAC and AOPP in the seminal plasma of 131 childless men and 38 fertile volunteers were determined spectrophotometrically. Seminal MMP-9 expression was higher in childless men than in fertile subjects, whereas there was no significant differences in MMP-2 expression between the analysed seminal groups. TIMP-1 and TIMP-2 expression was similar in all groups. However, TAC expression was significantly higher in infertile normozoospermic and oligozoospermic men and AOPP expression was higher in astheno-, oligo- and normozoospermic infertile patients than in fertile men. High AOPP, together with an increased MMP-9 : TIMP-1 ratio alters the oxidative–antioxidative balance of the ejaculate, thereby reducing male fertility, and therefore these parameters may serve as additional diagnostic markers of semen quality and male reproductive potential.

scholarly journals GAMBARAN SPERMIOGRAM PENDERITA INFERTIL DENGAN VARIKOKEL

2015 ◽  
Vol 3 (3) ◽  
Author(s):  
Piere Tendean ◽  
Lydia Tendean ◽  
Benny Wantouw
Keyword(s):  
Observational Study ◽  
Sperm Motility ◽  
Male Fertility ◽  
Sperm Morphology ◽  
Sperm Cells ◽  
Microscopical Examination ◽  
Cross Sectional ◽  
Cross Sectional Design ◽  
Infertile Patients

Abstract: Spermiogram is an examination for determination of male fertility. Evaluation of a spermiogram consists of macroscopical and microscopical examination of sperm cells, which are concentration, motility and morphology of sperm cells. This study aimed to obtain the spermiogram of infertile patients with varicocele. This was an observational study with a cross-sectional design by using sperm samples of 30 infertile patients with varicocele. Evaluation of spermatozoa quaity was determined by using WHO standard 2010. The results showed that the sperm concentrations were <15 million/ml, sperm motility <40% /field, and sperm morphology <30%/field. Conclusion: In this study the spermiogram of infertile patients with varicocele was abnormal with oligozoospermi, asthenozoospermi, and teratozoospermi.Keywords: varicocele, spermiogramAbstrak: Spermiogram merupakan salah satu pemeriksaan untuk menentukan fertilitas seorang pria. Evaluasi spermiogram meliputi makroskopik dan mikroskopik sel spermatozoa yaitu konsentrasi, motilitas, dan morfologi sel spermatozoa. Penelitian ini bertujuan untuk mendapatkan gambaran spermiogram penderita infertil dengan varikokel. Penelitian ini bersifat observasional dengan desain potong lintang dengan menggunakan sampel sperma dari 30 penderita infertil dengan varikokel. Evaluasi kualitas spermatozoa berdasarkan standard WHO 2010. Hasil penelitian ini didapatkan yaitu konsentrasi sperma <15 juta/ml, motilitas sperma <40%/lp, dan morfologi sperma < 30%/lp. Simpulan: Pada penelitian ini gambaran spermiogram penderita infertil dengan varikokel ialah abnormal dengan oligozoospermi, asthenozoospermi, dan teratozoospermi. Kata kunci: varikokel, spermiogram

SOX9 regulates expression of the male fertility gene Ets variant factor 5 ( ETV5 ) during mammalian sex development

2016 ◽  
Vol 79 ◽  
pp. 41-51 ◽  
Author(s):  
Dimuthu Alankarage ◽  
Rowena Lavery ◽  
Terje Svingen ◽  
Sabine Kelly ◽  
Louisa Ludbrook ◽  
...  
Keyword(s):  
Male Fertility ◽  
Sex Development ◽  
Fertility Gene

scholarly journals Physical mapping of a male-fertility gene of common wheat.

1991 ◽  
Vol 66 (3) ◽  
pp. 291-295 ◽  
Author(s):  
Takashi R. ENDO ◽  
Yasuhiko MUKAI ◽  
Maki YAMAMOTO ◽  
Bikram S. GILL
Keyword(s):  
Common Wheat ◽  
Physical Mapping ◽  
Male Fertility ◽  
Fertility Gene

scholarly journals The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility

2020 ◽  
Vol 35 (9) ◽  
pp. 1983-1990 ◽  
Author(s):  
Henrike Krenz ◽  
Jörg Gromoll ◽  
Thomas Darde ◽  
Frederic Chalmel ◽  
Martin Dugas ◽  
...  
Keyword(s):  
Male Infertility ◽  
Clinical Research ◽  
Germ Cells ◽  
Male Fertility ◽  
Literature Search ◽  
Research Unit ◽  
Male Germ Cells ◽  
Raw Data ◽  
Fertility Gene ◽  
Clinical Research Unit

Abstract STUDY QUESTION How can one design and implement a system that provides a comprehensive overview of research results in the field of epi-/genetics of male infertility and germ cells? SUMMARY ANSWER Working at the interface of literature search engines and raw data repositories, the newly developed Male Fertility Gene Atlas (MFGA) provides a system that can represent aggregated results from scientific publications in a standardized way and perform advanced searches, for example based on the conditions (phenotypes) and genes related to male infertility. WHAT IS KNOWN ALREADY PubMed and Google Scholar are established search engines for research literature. Additionally, repositories like Gene Expression Omnibus and Sequence Read Archive provide access to raw data. Selected processed data can be accessed by visualization tools like the ReproGenomics Viewer. STUDY DESIGN, SIZE, DURATION The MFGA was developed in a time frame of 18 months under a rapid prototyping approach. PARTICIPANTS/MATERIALS, SETTING, METHODS In the context of the Clinical Research Unit ‘Male Germ Cells’ (CRU326), a group of around 50 domain experts in the fields of male infertility and germ cells helped to develop the requirements engineering and feedback loops. They provided a set of 39 representative and heterogeneous publications to establish a basis for the system requirements. MAIN RESULTS AND THE ROLE OF CHANCE The MFGA is freely available online at https://mfga.uni-muenster.de. To date, it contains 115 data sets corresponding to 54 manually curated publications and provides an advanced search function based on study conditions, meta-information and genes, whereby it returns the publications’ exact tables and figures that fit the search request as well as a list of the most frequently investigated genes in the result set. Currently, study data for 31 different tissue types, 32 different cell types and 20 conditions are available. Also, ∼8000 and ∼1000 distinct genes have been found to be mentioned in at least 10 and 15 of the publications, respectively. LARGE SCALE DATA Not applicable because no novel data were produced. LIMITATIONS, REASONS FOR CAUTION For the most part, the content of the system currently includes the selected publications from the development process. However, a structured process for the prospective literature search and inclusion into the MFGA has been defined and is currently implemented. WIDER IMPLICATIONS OF THE FINDINGS The technical implementation of the MFGA allows for accommodating a wide range of heterogeneous data from aggregated research results. This implementation can be transferred to other diseases to establish comparable systems and generally support research in the medical field. STUDY FUNDING/COMPETING INTEREST(S) This work was carried out within the frame of the German Research Foundation (DFG) Clinical Research Unit ‘Male Germ Cells: from Genes to Function’ (CRU326). The authors declare no conflicts of interest.

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