Y chromosome review. The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved Background: Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. g. The presence or absence of this chromosome determines gonadal sex. Jan 5, 2025 · Review Article: The effects of loss of Y chromosome on male health. Y chromosome differs from other human chromosomes. An international consortium for human ring As X and Y chromosome-bearing-spermatids express distinct genes encoded by each sex chromosome (Hendriksen, 1999), it might result in the proteomics difference between X and Y spermatozoa. 5A). We undertook a systematic review of the literature followed by meta-analyses and trial sequential analyses in order to compare the frequency of b2/b3 deletions between oligo/azoospermic infertile and … Apr 6, 2020 · This review sets out to describe the Y chromosome and unique susceptibility to copy number variation and then to examine how this growing body of research impacts spermatogenesis and other health factors. The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. In this review, I will sketch a brief history … Sep 23, 2023 · The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. This response documents Carter’s errors. Here I review the literature, Jan 2, 2025 · Loss of Y chromosome (LOY), the most commonly occurring post-zygotic (somatic) mutation in male&nbsp;individuals, affects immune activity and is associated with cancer, neurodegeneration Apr 18, 2024 · The Y chromosome has gained significant importance in the examination of genetic studies of populations because of its non-recombinant character and its form of uniparental inheritance. The series began In mammals, the Y chromosome plays the pivotal role in male sex determination and is essential for normal sperm production. There are only 45 genes on the Y chromosome, and it is just one of these that makes you male. Apr 29, 2017 · This review is aimed at providing a comprehensive overview of Y chromosome-linked CNVs, genes, and Y chromosome haplogroups in relationship to spermatogenic failure. Mark A. Prevalent in haematopoietic cells, this common somatic Jul 3, 2021 · The Y chromosome has been widely explored for the study of human migrations. This work seeks to offer a comprehensive review of the specialty literature in the field of population genetics, focusing specifically on the analysis of the human Y chromosome using a bibliometric However, there have been no literature reviews that analyze in depth the molecular mechanisms that produce mLOY. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. Apr 6, 2020 · The Y chromosome is essential for testis development and spermatogenesis. In mammals, the Y chromosome contains the SRY gene, which The following review examines the role of the SHR Y chromosome and specifically the Sry gene complex in hypertension and potential mechanisms that involve the sympathetic nervous system and renin angiotensin system. Because of Jul 18, 2024 · In this Review, the authors describe recent studies in both non-model and model organisms that illustrate the diversity of animal sex chromosomes with respect to their evolutionary histories and Genetic variation on the Y chromosome is one of the best-documented causes of male infertility, but the genes responsible have still not been identified. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. Cultural (linguistic) and Y-chromosome genetic analysis of their male lineages confirms a link to other Semitic-speaking peoples. LOY is characterized by decreased expression of pluripotency markers and global downregulation of ribosomal protein gene transcription, a phenomenon shared with Turner syndrome and Diamond-Blackfan anemia. Y-linked inheritance traits and disorders are only found in males and never in females, due to transmission of a variant Y chromosome (Fig. The recent application of genome-wide technologies to evolutionarily old and young Y chromosomes has provided The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. Such deletions lead to copy This review focuses on the structure, inheritance characteristics, gene content, and the origin and evolution of Y chromosome. The father's traits are passed to all of his sons, and Jul 18, 2022 · An overview of the independent histories of the human Y chromosome and the human mitochondrial chromosome, 8th International Conference on Creationism, pp. Mar 28, 2021 · Email: ryan. These microdeletions are distinguished by High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole The human Y-chromosome contains genetic material responsible for normal testis development and spermatogenesis. However, research in the past decade has shed light on the significance of Y chromosome loss for men's health, challenging the earlier belief. However, recent work has demonstrated important roles for the Y chromosome and Y-encoded genes in multiple domains of male health, including cancer. However, this was not always the case. We also discuss the relationship between the human Y chromosome and phenotypes such as male reproduction and consider the biological roles of the Y chromosome. Li et al. Additional reported features include speech delay, obesity, and acanthosis nigricans. Apr 11, 2024 · International Journal of Molecular Sciences Review Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’ s Health Itzae Adonai Guti érrez-Hurtado1 Jan 30, 2025 · This study introduces a method to systematically compare the functions of homologous (shared) genes between the X and Y chromosomes (gametologues) across the human body. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. performed a systematic review on the progress of diagnostic technologies for analyzing ring chromosomes and the current understanding of clinical and cytogenomic heterogeneity of ring chromosomes. While females have two Xs, which is a very large chromosome, men have an X and Y,” Graves says. Sep 1, 2017 · Clinical significance of Y chromosome microdeletion screening is to rule out the utility of surgical sperm retrieval method. Aug 1, 2003 · Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among human chromosomes — rich in junk, poor in useful attributes, reluctant to socialize with its neighbours Jul 29, 2024 · Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration The Y chromosomes of many species, including humans, are gene-poor and degenerate. Different human phenotypes are associated with non-recombinant region of Y chromosome. The human Y-chromosome contains genetic material responsible for normal testis development and spermatogenesis. Feb 1, 2021 · Hence, this review aimed to summarize and discuss modern trends in the epidemiology, screening guidelines, and clinical considerations pertaining to YCMs. To fully understand the diversity and importance of the Y chromosome, we suggest the need to move from a holotype Y chromosome sequence, based on a single individual and meant to Apr 11, 2024 · Until a few years ago, it was believed that the gradual mosaic loss of the Y chromosome (mLOY) was a normal age-related process. Oct 12, 2020 · “Y chromosome is a sex-chromosome and crucial for maleness. The Y-chromosome’s roles in testis determination and spermatogenesis are well defined and widely appreciated, especially in human and mouse, while the Y chromosome’s roles beyond Significant advances in the genetic diagnosis and clinical management for constitutional ring chromosomes have been achieved in the past 60 years. Focusing on humans and mice, we discuss the early evidence that the Y chromo-some is more than just a sex switch, and the subsequent efforts to discover the Y genes involved in The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. We also present results from a phylogeographic analysis of Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health Itzae Adonai Gutiérrez-Hurtado 1 , Astrid Desireé Sánchez-Méndez 2,3, Denisse Stephania Becerra-Loaiza 4 , Héctor Rangel-Villalobos 5 , Norma Torres-Carrillo 6, Martha Patricia Gallegos-Arreola 7 and José Alonso Aguilar Mammals have the oldest sex chromosome system known: the mammalian X and Y chromosomes evolved from ordinary autosomes beginning at least 180 million years ago. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. edu Abstract: Deletions within the male-specific region of the Y-chromosome, known as Y-Chromosome Microdeletions (YCMs), are present in as many as 5% and 10% of severe oligospermic and azoospermic men, respectively. ” May 30, 2017 · Genetic variation of the human Y chromosome plays a key part in studies of human evolution, population history, genealogy, forensics and male medical genetics. The long arm (Yq) of the Y-chromosome has been found to be susceptible to self-recombination during spermatogenesis predisposing this The correlation of Y-chromosome b2/b3 partial deletions with spermatogenic failure remains dubious. Several case scenarios are presented to point out the advantages and disadvantages of Y-STR testing over autosomal STR testing. Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes. This phylogenetic gene tree comprises 18 major haplogroups that are defined by 48 binary polymorphisms. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype Dec 6, 2023 · Mosaic loss of chromosome Y (mLOY) refers to the condition in male individuals in which a detectable fraction of cells lose the Y chromosome. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and Mar 28, 2021 · This review sets out to describe the Y chromosome and unique susceptibility to copy number variation and then to examine how this growing body of research impacts spermatogenesis and other health factors. We then overview the associations between LOY and age-related disease traits. This work seeks to offer a comprehensive review of the specialty Oct 6, 2023 · The human Y chromosome has a crucial role in the processes of male embryogenesis, development of male genitalia and fertility 1. The past decade of research suggests that LOY has important effects in shaping the activity of the immune system, and multiple studies have shown the effects of LOY on a range of diseases, including cancer, neurodegeneration Oct 29, 2020 · The Human Y chromosome (ChrY) has been demonstrated to be a powerful tool for phylogenetics, population genetics, genetic genealogy and forensics. Nature Reviews Genetics 4, 598 - 612 (2003) NATURE NEWS Y chromosome sequence completed DNA readout reveals genetic palindromes safeguard male-defining chromosome. However, it is now known that mLOY is associated with a wide variety of pathologies in men, such as cardiovascular diseases, neurodegenerative disorders, and many types of … The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications^1-3. This review paper describes the Y-linked AZFa sub-region genes along with deletion Although there are portions of the Y chromosome that are in common with the X chromosome to facilitate meiosis in males, the majority of the Y chromosome is nonrecombining and male specific. Nov 27, 2024 · Abstract Recent methodological approaches have expanded our understanding of Y chromosome sequence, revealed unexpected Y diversity, and sparked a growing realization of its importance in evolutionary processes. Patients with AZFc microdeletion can go for sperm retrieval but in case of AZFa and AZFb microdeletion have very minor probability of surgical sperm retrieval (Mascarenhas et al. [1] In the series, a mysterious cataclysmic event simultaneously kills every mammal with a Y chromosome —except for Yorick Brown and his monkey–and follows him as he traverses the new world. The main advantage of the Y-STR approach is the ability to detect the male component even … Complete Y-chromosome microdeletions (YCMs) are rare in men with >1 million sperm/ml. The Y chromosome is mostly known for its relatively small size and Aug 10, 2023 · This review focuses on Y chromosome genomic structures, or Y haplogroups, and their associations with human disease and health. The incidence of these deletions is … Mar 26, 2025 · Response to: “The Promises and Pitfalls of Correlating Y Chromosome Genetics to Human History, Review of: Traced: Human DNA’s Big Surprise by Nathaniel T. Therefore, this paper aims to review the molecular mechanisms that may be associated with Y chromosome loss in males, as well as the effects of mLOY on men’s health and its possible application in forensic genetics (Figure 1). In short, the Jan 24, 2025 · Based on co-expression fingerprint analysis between homologous genes in the X and Y chromosomes (gametolog pairs) across &gt;40 human tissues, the authors suggest that X and Y gametologs have Abstract The Y chromosome has gained significant importance in the examination of genetic studies of populations because of its non-recombinant character and its form of uniparental inheritance. Jobling* and Chris Tyler-Smith‡ Until recently, the Y chromosome seemed to fulfil the role of juvenile delinquent among human chromosomes — rich in junk, poor in useful attributes, reluctant to socialize with its neighbours and with an inescapable tendency to degenerate. Previously an autosome, Y chromosome evolution has been characterized by massive Nov 2, 2024 · “Chromosomes come in pairs, but the sex pair is unusual for its difference in males and females. Hence, this review aimed to summarize and discuss modern trends in the epidemiology, screening guidelines, and clinical considerations pertaining to YCMs. The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure including long palindromes, tandem repeats, and segmental duplications1–3. Routine screening for YCMs should occur only if sperm concentration is ≤1 million sperm/ml. Abstract: The human Y-chromosome contains genetic material responsible for normal testis development and spermatogenesis. , 2016). Keywords: Y chromosome, abnormalities Oct 29, 2020 · The Human Y chromosome (ChrY) has been demonstrated to be a powerful tool for phylogenetics, population genetics, genetic genealogy and forensics. Oct 31, 2002 · Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). The Y chromosome has a special primary role in human genetics—determining male sex—that gives it a functional unity in a way that no other chromosome has, and leads to a host of unique consequences for its medical, population and forensic genetics. , ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. The Y chromosome is unique in that the majority of its structure is May 13, 2025 · Analysis of >2,650 samples of male human embryonic stem cells (hESCs) and their derivatives shows loss of Y (LOY) chromosome in 12% of hESC samples. Keywords: Y chromosome, abnormalities, chromosomal, gene deletion, genetics, infertility, male Deletions within the male-specific region of the Y-chromosome, known as Y-Chromosome Microdeletions (YCMs), are present in as many as 5% and 10% of severe oligospermic and azoospermic men, respectively. Several unique features of the Y chromosome—its lack of a homologous partner for Feb 12, 2021 · Deletions within the male-specific region of the Y-chromosome, known as Y-Chromosome Microdeletions (YCMs), are present in as many as 5% and 10% of severe oligospermic and azoospermic men, respectively. Image Credit: Rost9 / Shutterstock In a recent review article in the journal Nature Reviews Genetics, researchers discussed the Oct 21, 2025 · Are you interested in tracing your paternal ancestry through history? Check out the best Y-chromosome DNA tests that can help you find you roots. It is well established that males ex … Abstract In this review we discuss the recent construction of a highly resolved tree of the nonrecombining portion of the Y chromosome (NRY), and the development of a cladistic nomenclatural system to name the resulting haplogroups. It is found in cells of the male persons only. “In comparison to the X, the Y is tiny. Jan 2, 2025 · Loss of Y chromosome (LOY) is the most commonly occurring post-zygotic (somatic) mutation in male individuals. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequenc … Abstract The Y chromosome has gained significant importance in the examination of genetic studies of populations because of its non-recombinant character and its form of uniparental inheritance. Complete Y-chromosome microdeletions (YCMs) are rarely found in men with sperm concentrations of 1–5 million sperm/ml. There are consistent gender differences in hypertension, with a greater proportion o … In this review, we first describe the evolutionary history of the X- Y chromosome pair, then use it as a paradigm with which to understand how the Y chromosome has become functionally specialised across mammals. Recent whole-genome and tra … In this review, we will introduce recent analyses using large-scale genome cohort data and previously reported association studies between Y chromosome haplogroups and human phenotypes, such as male infertility, cancer, cardiovascular system traits, and neuropsychiatric disorders. Vaughan and Pia Guerra's iconic comic books about the aftermath of a plague that kills everybody with a Y chromosome arrives as an FX on Apr 1, 2021 · The area of forensic Y chromosome analysis has been successfully developed to become standard in laboratories working in criminal casework all around the world since the early 1990s. As a result, more than half of the Y chromosome is Nov 16, 2020 · Email tpkohn@jhmi. ca. This review discusses how an evolutionary perspective may help with interpretation of the data available Jan 1, 2021 · Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. The long arm (Yq) of the Y-chromosome has been found to be susceptible to self-recombination during spermatogenesis predisposing this area to deletions. Finally, we discuss murine models and the potential mechanisms by which LOY contributes to dise … Sep 8, 2021 · 'Y: The Last Man,' FX on Hulu's adaptation of Brian K Vaughn's comic starring Diane Lane, feels stuck in a single, grim gear. Here we review the evidence in animals and humans that Y chromosome lineage influences hypertension and cardiovascular disease risk, with a novel focus on pathways of immunity as a significant pathway involved. The Lemba have also clearly have been influenced by neighboring their Bantu-speaking peoples but at their core, their historical Jewishness appears validated genetically. These results elucidate the effect of LOY Feb 12, 2021 · Deletions within the male-specific region of the Y-chromosome, known as Y-Chromosome Microdeletions (YCMs), are present in as many as 5% and 10% of severe oligospermic and azoospermic men, respecti Recent research on the flow cytometry of sperm for the purpose of predetermining gender of offspring has led to a validated method to separate X from Y chromosome-bearing sperm for use with in vitro fertilization and embryo transfer, intratubal insemination or intracytoplasmic sperm injection. This chromosome is of great significance in the human sex determination and the development of male gametes (sperma … Jan 23, 2024 · However, due to the Y chromosome's small number of genes, which are predominantly expressed in reproductive tissues, the consequence of its absence in hematopoietic cells has been largely overlooked. Mar 1, 2001 · Here, we review how studies of the human Y have already cast a spotlight on the role of evolution in moulding the distinctive biological properties of sex chromosomes. Usually, LOY occurrence increases with chronological age in healthy men Apr 22, 2024 · The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences. Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e. The Y chromosome is the most gene-deficient chromosome in the human genome (though not the smallest chromosome) and has largely been sequestered away from large-scale studies of the effects of genetics on human health. Yet only three Y chromosomes have been completely sequenced to date—those of human, chimpanzee, and rhesus macaque. North American and European guidelines should be reconsidered, and clinicians do not need routine YCM screening if sperm concentrations are >1 million sperm/ml. 4. Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is used for sex-determining as the presence of the Y chromosome typically causes offspring produced in sexual reproduction to develop phenotypically male. The b … The human Y chromosome is intriguing not only because it harbours the master-switch gene determining gender but also because of its unusual evolutionary trajectory. Due to its paternal inheritance, the Y chromosome polymorphisms are helpful tools for understanding the geographical distribution of populations all over the world and for inferring their origin, which is really useful in f … Moreover, the Y genes are in continuous decay probably due to the lack of recombination of this chromosome. This work seeks to offer a comprehensive review of the specialty literature in the field of population genetics, focusing specifically on the analysis of the human Y chromosome using a bibliometric The following review examines the role of the SHR Y chromosome and specifically the Sry gene complex in hypertension and potential mechanisms that involve the sympathetic nervous system and renin-angiotensin system. 133–151, 2018. In this review, we summarise existing evidence about … Sep 8, 2021 · After a decade in development for film and TV, Brian K. Abstract In 2022, Carter published a “robust peer review” of my book, Traced: Human DNA’s Big Surprise. These microdeletions are distinguished by which segment of the Y chromosome is absent, identified … The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. This Review outlines how next Jan 18, 2013 · The Y chromosomes of many species, including humans, are gene-poor and degenerate. Nevertheless, the mechanisms that generate mLOY in men have not been studied so far Mammals have the oldest sex chromosome system known: the mammalian X and Y chromosomes evolved from ordinary autosomes beginning at least 180 million years ago. Only since 1992 have we seen that some forensic scientists started to have an interest in this chromosome. Oct 4, 2021 · In this review, we first describe the evolutionary history of the X-Y chromosome pair, then use it as a paradigm with which to understand how the Y chromosome has become functionally specialised across mammals. The remarkable historical context of Europe, with numerous migrations and invasions Y: The Last Man is an American post-apocalyptic drama television series developed by Eliza Clark based on the comic book series of the same name by Brian K. The Y chromosome has been widely explored for the study of human migrations. Due to its paternal inheritance, the Y chromosome polymorphisms are helpful tools for understanding the geographical distribution of populations all over the world and for inferring their origin, which is really useful in forensics. The authors discover Jun 13, 2019 · Furthermore, recent studies in mice and humans have shown that Y chromosome lineage determines susceptibility to autoimmune disease. Usually this method is applied in cases of male-on-female sexual assault, in which the victim's DNA is in great excess and masked the male contribution. Unfortunately, in his review, Carter was unable to articulate the reasoning or evidence in Traced, let alone constructively engage it. Despite their shared ancestry, mammalian Y chromosomes display enormous variation among species in size, gene content, and structural compl … SUMMARY POINTS Three biological themes have defined Y-chromosome research in the age of molecular genetics and genomics: testis determination, spermatogenesis, and biological roles beyond the reproductive tract. Apr 23, 2019 · The analysis of short tandem repeat (STR) markers located on the Y chromosome is an established method in forensic casework analysis. Recent whole-genome and tra … Jul 1, 2023 · We present a brief introduction of loss of Y chromosome (LOY) in blood and describe the known risk factors for this condition. However, the importance of ChrY genetic variation in relation to human complex traits is less clear. Despite their shared ancestry, mammalian Y chromosomes display enormous variation among species in size, gene content, and structural complexity. It is a chromosome with the lowest gene density owing to its medium size but paucity of coding genes. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Y-chromosome-specific human DNA markers can be a useful tool in forensic casework. Jeanson” Apr 11, 2024 · Until a few years ago, it was believed that the gradual mosaic loss of the Y chromosome (mLOY) was a normal age-related process. Aug 1, 2019 · Excerpt Clinical characteristics: Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 10 6 sperm/mL semen), moderate oligozoospermia (1-5 x 10 6 sperm/mL semen), or mild oligozoospermia (5-20 x 10 6 sperm/mL semen). There are consistent gender differences The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). Vaughan and Pia Guerra. In this review, we summarise existing evidence about the inherent complexities of ChrY variation and their use in association studies of human We would like to show you a description here but the site won’t allow us. Explore the in-depth structural analysis (including important genes) and the function of the Y chromosome in the present article. May 17, 2022 · Nowadays, the use of Y-chromosome polymorphisms forms an essential part of many forensic DNA investigations. Y-STR analysis is able to detect the presence of minuscule amounts of male DNA of one or multiple donors and Feb 17, 2018 · The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. But the human Y chromosome, at the same time, plays a central role in human biology. However, it is now known that mLOY is associated with a wide variety of pathologies in men, such as cardiovascular diseases, neurodegenerative disorders, and many types of cancer. We also discuss the long-term destiny of Y chromosome. It also reevaluates the predictions of Traced in light of recent Y chromosome evidence. flannigan@ubc. While Y chromosomes are notoriously difficult to sequence owing to their highly repetitive genomic landscapes, these dedicated sequencing efforts have . Y chromosomes rewrite British Jul 2, 2024 · The Y chromosome has recognized functions in promoting male sex determination and regulating aspects of fertility. jstv hkq bt9w7a lb9a98 bnl6 jv imo5c y936m trn sro16f7