Article
Obstetrics & Gynecology
Myriam Ghorbel, Siwar Baklouti-Gargouri, Rim Keskes, Afifa Sellami, Ken McElreavy, Leila Ammar-Keskes
Summary: The present study aimed to investigate the implication of Y chromosome genetic variations and haplogroups in Tunisian infertile men. The results showed a significantly higher frequency of the J1J* haplogroup in azoo/oligospermic patients compared to normospermic men, suggesting it may be a risk factor for infertility in the Tunisian population. Additionally, the R1 haplogroup was found to provide stability to the Y chromosome in Tunisian men.
Article
Reproductive Biology
Hayden Holmlund, Yasuhiro Yamauchi, Gerald Durango, Wataru Fujii, Monika A. Ward
Summary: We generated Prssly and Teyorf1 knockout mice using CRISPR/Cas9 technology, and found that these genes are dispensable for male fertility as the knockout mice displayed normal spermatogenic features.
BIOLOGY OF REPRODUCTION
(2022)
Review
Developmental Biology
Hayden Holmlund, Yasuhiro Yamauchi, Victor A. Ruthig, Julie Cocquet, Monika A. Ward
Summary: The ZFY gene is conserved and critical for fertility in eutherians. It is involved in multiple processes during spermatogenesis and plays a role in sex chromosome inactivation and meiosis regulation.
MOLECULAR HUMAN REPRODUCTION
(2023)
Review
Cell Biology
Yong Xu, Qianqian Pang
Summary: The male-specific Y chromosome plays a significant role in testis development and function. It has unique characteristics such as diverse repetitive sequences and palindrome structure. Deletions of certain sequences can lead to spermatogenesis disorders and male infertility, as well as increase the susceptibility to reproductive system cancers. Additionally, the Y chromosome has special value in forensic medicine for personal identification and parentage testing. However, the analysis of Y chromosome sequences and the study of Y-gene function still face unresolved problems due to the high complexity and limitations of sequencing technology.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Andrology
Nemanja Vucic, Nevena Kotarac, Suzana Matijasevic, Lana Radenkovic, Ivan Vukovic, Branko Budimirovic, Mirka Djordjevic, Dusanka Savic-Pavicevic, Goran Brajuskovic
Summary: This study aimed to explore the possible association of CNVs in the AZF region of the Y chromosome with idiopathic male infertility in the Serbian population, finding higher frequency of CNVs in infertile men than fertile controls. Significant differences were observed in partial deletions identified in the AZFc region, but further research on a larger study group is needed to draw more meaningful conclusions about these associations.
Article
Biochemistry & Molecular Biology
Filomena Mottola, Marianna Santonastaso, Valentina Ronga, Renata Finelli, Lucia Rocco
Summary: This study investigated the association between polymorphic rearrangements of chromosome 9 and male infertility. The results suggested that these rearrangements might be associated with abnormalities in sperm quality, indicating their potential impact on spermatogenesis regulation.
Review
Biochemistry & Molecular Biology
Puja Devi Nongthombam, Suttur S. Malini
Summary: A meta-analysis was conducted to investigate the association between DAZL gene polymorphisms and DAZ cluster gene deletion with male infertility. The results showed no association between 260A > G and 386A > G polymorphisms and male infertility, but a clear correlation between complete deletion of the DAZ gene cluster and male infertility. Further studies from a broader range of nations and ethnicities are needed for more definitive conclusions.
Article
Surgery
Jose Romo-Yanez, Rosalba Sevilla-Montoya, Edith Perez-Gonzalez, Josiff Flores-Reyes, Estibalitz Laresgoiti-Servitje, Salvador Espino-Sosa, Mauricio Dominguez-Castro, Guadalupe Razo-Aguilera, Alberto Hidalgo-Bravo, Monica Aguinaga-Rios
Summary: The aim of this study was to determine the prevalence of Y-chromosome microdeletions in AZFa, AZFb, AZFc, and gr/gr regions in infertile Mexican patients. The results showed that 15.8% of infertile patients had Y-chromosome microdeletions, while no deletions were found in the control group. Additionally, the neural network model revealed a mild genotype-phenotype correlation between specific deletions and particular types of infertility.
CIRUGIA Y CIRUJANOS
(2022)
Article
Andrology
Prafulla S. Ambulkar, Jwalant E. Waghmare, Poonam Verma Shivkumar, Ajay R. Chaudhari, Nitin M. Gangane, Pratibha Narang, Asoke K. Pal
Summary: This study aimed to evaluate the role of variants/mutations in the testis-specific hTAF7L gene in non-obstructive azoospermia and severe oligozoospermia male infertility. The study found that the hTAF7L gene is highly polymorphic and the identified variants are not directly associated with male infertility.
Article
Biology
Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A. Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler-Smith, Maris Laan
Summary: A new structural variant was identified as a high-penetrance risk factor for male infertility, improving molecular diagnostics and clinical management of infertility. Identification of carriers at a young age will facilitate timely counseling and reproductive decision-making.
Article
Biology
G. Nacarkahya, C. Horozoglu, P. Koroglu, M. Baturu, M. Ozturk
Summary: Testicular dysfunction is related to genetic properties, specifically to microdeletions in the Azoospermia factors (AZF) on the Y chromosome. This study aimed to determine the frequency of Y chromosome microdeletions in infertility patients and examine their association with gonadal hormones, sperm concentration, and count. The results showed that gonadal hormone levels were higher in patients with chromosomal anomaly but without Y gene microdeletion. The presence of AZF gene deletion did not affect gonadal hormone levels, sperm count, or concentration. The study suggests that chromosomal anomaly has a greater impact on FSH, LH, testosterone levels, sperm count, and concentration than AZF gene deletions.
Review
Biochemistry & Molecular Biology
Xiaoli Wang, Lisha Yin, Yujiao Wen, Shuiqiao Yuan
Summary: Mitochondria adjust their morphology to suit different cell types and environments, playing important roles in spermatogenesis. Deficiencies in mitochondria can cause male infertility and regulate piRNA biogenesis. This review describes the characteristics of mitochondria, focusing on key mitochondrial factors and the underlying molecular mechanisms in spermatogenesis.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Cell Biology
Athina Vidaki, Diego Montiel Gonzalez, Benjamin Planterose Jimenez, Manfred Kayser
Summary: A male-specific age predictor based on Y chromosome was constructed, accurately predicting male age without decreased accuracy with increasing age.
Article
Ecology
Benjamin A. Sandkam, Pedro Almeida, Iulia Darolti, Benjamin L. S. Furman, Wouter van der Bijl, Jake Morris, Godfrey R. Bourne, Felix Breden, Judith E. Mank
Summary: Males of the freshwater fish Poecilia parae occur as one of five morphs with different reproductive strategies that are controlled by five Y haplotypes. Analysis of Y chromosomes of the five morphs shows extreme diversity in the three major morphs despite constraints imposed by lack of recombination of sex chromosomes.
NATURE ECOLOGY & EVOLUTION
(2021)
Article
Oncology
Malgorzata Lysiak, Anja Smits, Kenney Roy Roodakker, Elisabeth Sandberg, Anna Dimberg, Munila Mudaisi, Charlotte Bratthall, Michael Strandeus, Peter Milos, Martin Hallbeck, Peter Soderkvist, Annika Malmstrom
Summary: This study revealed a strong correlation between deletion of the SRY gene and reduced overall survival in male GBM patients. The findings suggest that deletions and reduced gene expression of chromosome Y genes, especially SRY, may play a role in the reduced survival of male GBM patients and are connected to major gliomagenesis pathways.
Article
Medicine, General & Internal
Mayssa Abdelwahed, Ines Maaloul, Valerie Benoit, Pascale Hilbert, Mongia Hachicha, Hassen Kamoun, Leila Keskes-Ammar, Neila Belguith
Summary: Juvenile nephronophthisis (NPHP) is a common genetic cause of chronic renal failure in children. Analysis of NPHP1 deletion using diagnostic methods like MLPA and multiplex PCR is important, especially in patients from consanguineous families. This study provides insights into genotype-phenotype correlations in juvenile nephronophthisis for genetic counseling.
ACTA CLINICA BELGICA
(2021)
Article
Biochemistry & Molecular Biology
Olfa Alila-Fersi, Hajer Aloulou, Ines Werteni, Nadia Mahfoudh, Imen Chabchoub, Hassen Kammoun, Leila Keskes, Mongia Hachicha, Neila Belguith, Faiza Fakhfakh
JOURNAL OF MOLECULAR NEUROSCIENCE
(2020)
Article
Pathology
Ons Boudaouara, Rim Kallel, Dhouha Dhieb, Walid Smaoui, Houda Ben Ayed, Leila Keskes, Tahya Sellami Boudawara
ANNALS OF DIAGNOSTIC PATHOLOGY
(2020)
Article
Obstetrics & Gynecology
Imen Belguith, Dhoha Dhieb, Mouna Turki, Sourour Yaich, Kais Chaabene, Mouna Mnif, Fatma Ayadi, Leila Ammar Keskes
Summary: This study explored the expression pattern of circulating miR-199a-3p, miR-21-5p, and miR-let7i-3p in infertile women with dysregulated AMH levels. The results showed significant overexpression of miR-199a-3p and underexpression of miR-21-5p in the plasma samples of infertile women, suggesting their potential as non-invasive biomarkers for distinguishing infertile from fertile women.
Article
Oncology
Rim Frikha, Maha Ben Jemaa, Fakher Frikha, Ines Turki, Moez Elloumi, Leila Keskes, Hassen Kamoun, Tarek Rebai
Summary: This study found that the C677T variant of MTHFR is associated with HDMTX-related toxicity in Tunisian ALL patients, while the A1289C variant is not significantly correlated.
JOURNAL OF ONCOLOGY PHARMACY PRACTICE
(2021)
Article
Genetics & Heredity
Ikhlas Ben Ayed, Wael Ouarda, Fakher Frikha, Fatma Kammoun, Amal Souissi, Mariem Ben Said, Amal Bouzid, Ines Elloumi, Tarak M. Hamdani, Nourhene Gharbi, Nesrine Baklouti, Manel Guirat, Fatma Mejdoub, Najla Kharrat, Imene Boujelbene, Fatma Abdelhedi, Neila Belguith, Leila Keskes, Abdullah Ahmed Gibriel, Hassen Kamoun, Chahnez Triki, Adel M. Alimi, Saber Masmoudi
Summary: Pathogenic variants in SRD5A3 cause a rare inherited disorder known as SRD5A3-CDG, with common clinical features including arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. A novel missense pathogenic variant was reported, alongside the successful development of a computer-based dysmorphic facial analysis tool for accurate diagnosis.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Obstetrics & Gynecology
Rihab Derbel, Hanen Sellami, Rim Sakka, Ahlem Ben Slima, Ilyess Mkaddem, Radhouane Gdoura, Elreavy Mcelreavey, Leila Ammar-Keskes
Summary: The association of leukocytospermia with male fertility remains under debate. This study aimed to evaluate the association of leukocytospermia with sperm parameters, mitochondrial DNA variations, and oxidative stress and inflammatory cytokines in Tunisian infertile men. The results showed a significant increase in DNA fragmentation, mitochondrial DNA substitutions, and oxidative stress levels in the leukocytospermic group compared to the non-leukocytospermic group.
JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION
(2021)
Article
Andrology
Rihab Derbel, Hanen Sellami, Ahmed Rebai, Radhouane Gdoura, Elreavy Mcelreavey, Leila Ammar-Keskes
Summary: Leukocytospermia was found to impact sperm nuclear DNA integrity and mitochondrial DNA structure, possibly through oxidative stress leading to compromised sperm function. Patients with leukocytospermia exhibited higher MDA levels and more severe sperm DNA fragmentation, along with a greater number of substitutions in mitochondrial DNA sequencing, particularly in COXI. These findings suggest a potential link between leukocytospermia, prostate cancer, and mitochondrial DNA modifications influenced by oxidative stress.
Article
Genetics & Heredity
Mayssa Abdelwahed, Pascale Hilbert, Asma Ahmed, Mouna Dey, Salem Bouomrani, Hassen Kamoun, Leila Ammar-Keskes, Neila Belguith
Summary: A high prevalence of genetic kidney disease has been detected in Tunisia, and this study provides important clinical and genetic information. Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of kidney-related morbidity and mortality in Tunisia. The study analyzes the clinical and genetic characteristics of a cohort of Tunisian patients with ADPKD, providing insights for early diagnosis and management.
Article
Genetics & Heredity
Rim Sakka, Fatma Abdelhedi, Hanen Sellami, Bruno Pichon, Yosra Lajmi, Mouna Mnif, Sahbi Kebaili, Rihab Derbel, Hassen Kamoun, Radhouane Gdoura, Anne Delbaere, Julie Desir, Marc Abramowicz, Francois Vialard, Jean -Michel Dupont, Leila Ammar-Keskes
Summary: We report on a study of POI in a Tunisian family, which identified a duplication in the Xp22.12 region and a new heterozygous variant in the SPIDR gene associated with POI. Our findings suggest that EIF1AX and SPIDR genes may be involved in ovarian function.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Obstetrics & Gynecology
Myriam Ghorbel, Siwar Baklouti-Gargouri, Rim Keskes, Afifa Sellami, Ken McElreavy, Leila Ammar-Keskes
Summary: The present study aimed to investigate the implication of Y chromosome genetic variations and haplogroups in Tunisian infertile men. The results showed a significantly higher frequency of the J1J* haplogroup in azoo/oligospermic patients compared to normospermic men, suggesting it may be a risk factor for infertility in the Tunisian population. Additionally, the R1 haplogroup was found to provide stability to the Y chromosome in Tunisian men.
Article
Microbiology
Nour El Houda Mathlouthi, Aicha Kriaa, Leila Ammar Keskes, Moez Rhimi, Radhouane Gdoura
Summary: Colorectal cancer is a complex disease, and gut microbiota plays a significant role in its development and progression. The study found that the microbiota in colorectal cancer patients is enriched with virulence factors related to cell adhesion, isochorismatase, and microbial siderophores. Furthermore, advanced stages of colorectal cancer showed increased abundances of proteins associated with antibiotic resistance and biofilm development.
Article
Biochemistry & Molecular Biology
Bochra Ben Rhouma, Manuel Kley, Fakhri Kallabi, Faten Hadj Kacem, Thouraya Kammoun, Wajdi Safi, Leila Keskes, Mouna Mnif, Alex Odermatt, Neila Belguith
Summary: 17 beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD3) plays a crucial role in male sexual development by converting androstenedione to testosterone. Mutations in the HSD17B3 gene that cause 17 beta-HSD3 deficiency have been found in individuals with 46,XY Disorders of Sex Development (46,XY DSD). This study reports three new cases of Tunisian patients with HSD17B3 mutations, including a previously reported mutation and two novel mutations with different effects on enzyme activity.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2023)
Review
Oncology
Salma Abbes, Simone Baldi, Hayet Sellami, Amedeo Amedei, Leila Keskes
Summary: Colorectal cancer (CRC) is the third most common malignancy and second most deadly cancer worldwide, with a higher incidence in developed countries. It is a heterogeneous genomic disease with various alterations contributing to its development. Previous screening efforts for CRC have been limited by performance issues and low penetrance of standard screening tools, but the advent of next-generation sequencing (NGS) has revolutionized the identification of novel genomic CRC characteristics and understanding of its carcinogenesis. This review focuses on the diagnostic tools used for CRC screening, with an emphasis on recent NGS approaches and their role in identifying clinically actionable targets for personalized medicine.
WORLD JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Nour El Houda Mathlouthi, Hamadou Oumarou Hama, Imen Belguith, Slim Charfi, Tahya Boudawara, Jean-Christophe Lagier, Leila Ammar Keskes, Ghiles Grine, Radhouane Gdoura
Summary: In this study, the researchers performed a metagenomic analysis of colorectal cancer (CRC) patients in Tunisia to investigate the link between archaea and CRC. They found a significant association between Halobacteria, particularly Natrialba magadii, and tumor tissues in CRC patients. This study demonstrates the feasibility of archaeome analysis from formalin-fixed paraffin-embedded tissues using simple protocols and provides insight into the potential role of archaea in CRC.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
