scholarly journals The role of Y chromosome deletions in male infertility

2000 ◽  
pp. 418-430 ◽  
Author(s):  
K Ma ◽  
C Mallidis ◽  
S Bhasin
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Research ◽  
Gene Families ◽  
Azoospermia Factor ◽  
The World ◽  
Number Of Genes ◽  
Chromosome Deletions ◽  
Or Gene

Male infertility affects approximately 2-7% of couples around the world. Over one in ten men who seek help at infertility clinics are diagnosed as severely oligospermic or azoospermic. Recent extensive molecular studies have revealed that deletions in the azoospermia factor region of the long arm of the Y chromosome are associated with severe spermatogenic impairment (absent or severely reduced germ cell development). Genetic research into male infertility, in the last 7 years, has resulted in the isolation of a great number of genes or gene families on the Y chromosome, some of which are believed to influence spermatogenesis.

scholarly journals Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?

2010 ◽  
Vol 2010 ◽  
pp. 1-18 ◽  
Author(s):  
Paulo Navarro-Costa ◽  
Carlos E. Plancha ◽  
João Gonçalves
Keyword(s):  
Y Chromosome ◽  
Male Fertility ◽  
Molecular Mechanisms ◽  
Gene Families ◽  
Comprehensive Analysis ◽  
Gene Content ◽  
Genetic Dissection ◽  
Azoospermia Factor ◽  
Or Gene ◽  
Human Y Chromosome

The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion thatDDX3Y,KDM5D,RBMY1A1,DAZ, andCDYrepresent key AZF spermatogenic determinants will be discussed.

scholarly journals Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY

1999 ◽  
Vol 14 (7) ◽  
pp. 1710-1716 ◽  
Author(s):  
A. Ferlin ◽  
E. Moro ◽  
A. Garolla ◽  
C. Foresta
Keyword(s):  
Male Infertility ◽  
Candidate Genes ◽  
Y Chromosome ◽  
Human Male ◽  
Chromosome Deletions

scholarly journals Immunogenetic novelty confers a selective advantage in host–pathogen coevolution

2018 ◽  
Vol 115 (7) ◽  
pp. 1552-1557 ◽  
Author(s):  
Karl P. Phillips ◽  
Joanne Cable ◽  
Ryan S. Mohammed ◽  
Magdalena Herdegen-Radwan ◽  
Jarosław Raubic ◽  
...  
Keyword(s):  
Poecilia Reticulata ◽  
Adaptive Immune Response ◽  
Infection Intensity ◽  
Gene Families ◽  
Selective Advantage ◽  
Histocompatibility Complex ◽  
Host Pathogen ◽  
Polymorphic Gene ◽  
Or Gene

The major histocompatibility complex (MHC) is crucial to the adaptive immune response of vertebrates and is among the most polymorphic gene families known. Its high diversity is usually attributed to selection imposed by fast-evolving pathogens. Pathogens are thought to evolve to escape recognition by common immune alleles, and, hence, novel MHC alleles, introduced through mutation, recombination, or gene flow, are predicted to give hosts superior resistance. Although this theoretical prediction underpins host–pathogen “Red Queen” coevolution, it has not been demonstrated in the context of natural MHC diversity. Here, we experimentally tested whether novel MHC variants (both alleles and functional “supertypes”) increased resistance of guppies (Poecilia reticulata) to a common ectoparasite (Gyrodactylus turnbulli). We used exposure-controlled infection trials with wild-sourced parasites, and Gyrodactylus-naïve host fish that were F2 descendants of crossed wild populations. Hosts carrying MHC variants (alleles or supertypes) that were new to a given parasite population experienced a 35–37% reduction in infection intensity, but the number of MHC variants carried by an individual, analogous to heterozygosity in single-locus systems, was not a significant predictor. Our results provide direct evidence of novel MHC variant advantage, confirming a fundamental mechanism underpinning the exceptional polymorphism of this gene family and highlighting the role of immunogenetic novelty in host–pathogen coevolution.

scholarly journals The role of modern technologies in the management of azoospermia using microdissection TESE in the framework of the ECF-ICSI program. A literature review. Part I.

2012 ◽  
Vol 58 (5) ◽  
pp. 66-74
Author(s):  
I I Vitiazeva ◽  
S V Bogoliubov ◽  
I I Dedov
Keyword(s):  
Prognostic Factors ◽  
Literature Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Modern Methods ◽  
Modern Classification ◽  
Modern Technologies ◽  
Azf Region

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

2001 ◽  
Vol 108 (1) ◽  
pp. 55-58 ◽  
Author(s):  
L. Quintana-Murci ◽  
C. Krausz ◽  
E. Heyer ◽  
J. Gromoll ◽  
I. Seifer ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Chromosome Deletions ◽  
The Relationship

The role of the Y chromosome in male infertility

2001 ◽  
Vol 3 (3) ◽  
pp. 1-16 ◽  
Author(s):  
Nabeel A. Affara
Keyword(s):  
Cell Differentiation ◽  
Male Infertility ◽  
Germ Cell ◽  
Candidate Gene ◽  
Y Chromosome ◽  
Comparative Data ◽  
Male Germ Cell ◽  
Functional Genes ◽  
Germ Cell Differentiation

It was suggested by Ronald Fisher in 1931 that genes that benefit the male (including those required for spermatogenesis) would accumulate on the Y chromosome. Following the discovery that microdeletions of the Y chromosome were associated with diverse spermatogenic phenotypes, at least three intervals that contain one or more genes controlling male germ-cell differentiation have been identified in humans. These intervals, named AZFa, AZFb and AZFc, have been mapped, cloned and examined in detail for the presence of functional genes. In this review, I have discussed the genes that map to the AZF intervals and the evidence indicating which ones are the most likely candidates underlying Y-linked male infertility. In addition, I have considered the analysis of key intervals on the mouse Y chromosome, where it provides comparative data supporting the role of a candidate gene in an infertility phenotype.

The genetic basis of male infertility

1995 ◽  
Vol 4 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Ann C Chandley
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Basis ◽  
Genetic Component ◽  
Sperm Production ◽  
Azoospermia Factor ◽  
Y Chromosomes ◽  
Fertility Problems ◽  
The Many

Amongst men who attend fertility problems clinics, just over 10% are diagnosed to be oligospermic (< 5 × 106 sperm per ml) or azoospermic, with no known aetiological explanation. Amongst the many possible causes of impaired sperm production there is a genetic component, a pointer to the possible location of some of the responsible genes being found in 1976 when Tiepolo and Zuffardi discovered six azoospermic individuals with a deleted Y chromosome. In each individual, the long arm of the Y chromosome had lost its distal fluorescent segment as well as part of the nonfluorescent euchromatin lying proximal to it (Figure 1). They hypothesized that factors important in spermatogenesis might lie at the interface between fluorescent and nonfluorescent material. The locus, AZFor ‘azoospermia factor’, was subsequently mapped, using collections of deleted Y chromosomes, to interval six of the long arm and it lies within cytological band Yq11.23 (Figure 2).

THE ROLE OF UROGENITAL INFECTIONS IN THE PATHOGENESIS OF THE DEVELOPMENT OF MALE INFERTILITY

Vestnik ◽  
2021 ◽  
pp. 161-165
Author(s):  
Ж. Инкарбек ◽  
Ж. Турсынбеков ◽  
Е. Чакен ◽  
А.Х. Касымов ◽  
С.Б. Шалекенов
Keyword(s):  
Chlamydia Trachomatis ◽  
Male Infertility ◽  
Diagnostic Methods ◽  
Urogenital Tract ◽  
World Health ◽  
Urogenital Infection ◽  
Urogenital Infections ◽  
The World ◽  
Tract Infections

Вопрос бесплодия на сегодняшний день остается актуальным как в Казахстане, так и во всем мире. На основании данных Всемирной Организации Здравоохранения, ежегодно число бесплодных пар составляет 4-5% от всеобщей популяции. Причин бесплодия - множество. Но одним из острых и первоочередных причин данной патологии является мужское бесплодие, частота возникновения которого составляет 48,8% от общего количества случаев. [1] По данным мировых исследований, в процентном соотношении причины мужского бесплодия составляют: бесплодие неясного генеза - 31,2%, варикоцеле - 14,7%, эндокринные нарушения - 8,45%, инфекции урогенитального тракта - 8,3%, иммунологические факторы - 4,8%, опухоли яичек - 1,17%. [2] The issue of infertility today remains relevant both in Kazakhstan and around the world. The World Health Organization accounts for 4-5% of the general population annually. There are many reasons for infertility. One of the acute and primary causes of this pathology is male infertility, the incidence of which is 48.8% of the total number of cases. According to world studies, the percentage of the causes of male infertility are: infertility of unknown origin - 31.2%, varicocele - 14.7%, endocrine disorders - 8.45%, infections of the urogenital tract - 8.3%, immunological factors - 4 , 8%, testicular tumors - 1.17%. Goal. Establishing the role of individual infections and their association of the urogenital tract in the development of male infertility. Materials and methods. The study was carried out on the basis of the GKP on the REM "City polyclinic No. 26" in Almaty. A retrospective analysis of individual cards of 538 men from 21 to 45 years old who consulted urologists with complaints of urination, pain and discomfort in the anogenital region and above the bosom from January to December 2020 was carried out. The patients were divided into two groups: the first group - 258 men suffering from infertility, and who have other causes of infertility, the second - 280 men with normal fertility. Diagnostic methods were selected: bacterial culture of urine and scraping from the urethra, PCR of urogenital infections. Result: The total dissemination of the urethra in patients of the first group is 3 times higher than in men of the second group. However, we were interested not only in the general dissemination and types of pathogens, as according to the literature [1,2] the most aggressive chlamydia trachomatis and ureoplasm. In our frequency of occurrence of chlamydial infection in both groups was 153 (59.3%) and 23 (8%); mycoplasma - 148 (57.3%) and 45 (16%); ureaplasma - 137 (53.1%) and 63 (22.5%); Candida - 98 (37.9%) and 35 (12.5%); Trichomonas - 87 (33.7%) and 48 (17.1%); gardnerella - 94 (36.4%) and 56 (20%) people, respectively. Conclusions. Urogenital tract infections are the main reason people see a doctor. Infections are one of the factors in the development of infertility in men. For infection of the urogenital tract, PCR is the most sensitive and accurate compared to urine culture and urethral scrapings. The total dissemination of urogenital infection in the group of men with infertility is 46.3%, in comparison with the group of men with a normal norm in whom the percentage of STIs is 16%, indicates a direct effect of urogenital infection on the development of the male population. Along with the revealed, as the main factor of influence of the reproductive system, chlamydia trachomatis 59.3%, mycoplasma 57.3%, ureoplasm 53.1%, which moved to the second and third place in the development of infertility in the studied men. This factor and methods of treatment will be studied in studies.

Sign in / Sign up

Export Citation Format

Share Document