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JOURNAL ARTICLE
Juman Jubran, Rachel Slutsky, Nir Rozenblum, Lior Rokach, Uri Ben-David, Esti Yeger-Lotem
BACKGROUND: Aneuploidy, an abnormal number of chromosomes within a cell, is a hallmark of cancer. Patterns of aneuploidy differ across cancers, yet are similar in cancers affecting closely related tissues. The selection pressures underlying aneuploidy patterns are not fully understood, hindering our understanding of cancer development and progression. RESULTS: Here, we apply interpretable machine learning methods to study tissue-selective aneuploidy patterns...
April 15, 2024: Genome Biology
#2
JOURNAL ARTICLE
Wei Wei, Bojian Li, Fen Li, Kun Sun, Xuechao Jiang, Rang Xu
Conotruncal heart defects (CTD), subtypes of congenital heart disease, result from abnormal cardiac outflow tract development (OFT). FOXC1 and FOXC2 are closely related members of the forkhead transcription factor family and play essential roles in the development of OFT. We confirmed their expression pattern in mouse and human embryos, identifying four variants in FOXC1 and three in FOXC2 by screening these two genes in 605 patients with sporadic CTD. Western blot demonstrated expression levels, while Dual-luciferase reporter assay revealed affected transcriptional abilities for TBX1 enhancer in two FOXC1 variants and three FOXC2 variants...
April 3, 2024: Genomics
#3
JOURNAL ARTICLE
Pratima Gurung, James P McGee, Jeffrey D Dvorin
UNLABELLED: Condensin I is a pentameric complex that regulates the mitotic chromosome assembly in eukaryotes. The kleisin subunit CAP-H of the condensin I complex acts as a linchpin to maintain the structural integrity and loading of this complex on mitotic chromosomes. This complex is present in all eukaryotes and has recently been identified in Plasmodium spp. However, how this complex is assembled and whether the kleisin subunit is critical for this complex in these parasites are yet to be explored...
April 2, 2024: MBio
#4
Hanwen Zhang, Lilia Peyton, Ada McCarroll, Sol Díaz de León Guerrerro, Siwei Zhang, Prarthana Gowda, David Sirkin, Mahmoud El Achwah, Alexandra Duhe, Whitney G Wood, Brandon Jamison, Gregory Tracy, Rebecca Pollak, Ronald P Hart, Carlos N Pato, Jennifer G Mulle, Alan R Sanders, Zhiping P Pang, Jubao Duan
Translating genetic findings for neurodevelopmental and psychiatric disorders (NPD) into actionable disease biology would benefit from large-scale and unbiased functional studies of NPD genes. Leveraging the cytosine base editing (CBE) system, here we developed a pipeline for clonal loss-of-function (LoF) allele mutagenesis in human induced pluripotent stem cells (hiPSCs) by introducing premature stop-codons (iSTOP) that lead to mRNA nonsense-mediated-decay (NMD) or protein truncation. We tested the pipeline for 23 NPD genes on 3 hiPSC lines and achieved highly reproducible, efficient iSTOP editing in 22 NPD genes...
March 19, 2024: bioRxiv
#5
JOURNAL ARTICLE
Maëlig Abgral, Claire Bouvattier, Marie-Victoire Senat, Hanane Bouchghoul
INTRODUCTION: Prenatal investigations are usually performed to diagnose severe or associated forms of hypospadias. However, the value of this workup and the correlation with the postnatal diagnosis and follow-up have not been studied in the literature. The aims of the study were to describe postnatal outcomes. MATERIAL AND METHODS: We conducted a single-center retrospective study. We included fetuses with a prenatal suspicion of isolated hypospadias (no associated ultrasound abnormality)...
March 30, 2024: Journal of Gynecology Obstetrics and Human Reproduction
#6
JOURNAL ARTICLE
M Siermann, V van der Schoot, E M Bunnik, P Borry
STUDY QUESTION: Would the different regulatory approaches for preimplantation genetic testing (PGT) in Europe permit the implementation of preimplantation genetic testing using polygenic risk scores (PGT-P)? SUMMARY ANSWER: While the regulatory approaches for PGT differ between countries, the space provided for potential implementation of PGT-P seems limited in all three regulatory models. WHAT IS KNOWN ALREADY: PGT is a reproductive genetic technology that allows the testing for hereditary genetic disorders and chromosome abnormalities in embryos before implantation...
March 21, 2024: Human Reproduction
#7
JOURNAL ARTICLE
Yuki Muranishi, Yoshitomo Kobori, Yuko Katoh-Fukui, Satoshi Tamaoka, Atsushi Hattori, Akiyoshi Osaka, Hiroshi Okada, Kazuhiko Nakabayashi, Kenichiro Hata, Tomoko Kawai, Hiroko Ogata-Kawata, Toshiyuki Iwahata, Kazuki Saito, Masafumi Kon, Nobuo Shinohara, Maki Fukami
STUDY QUESTION: Do copy-number variations (CNVs) in the azoospermia factor (AZF) regions and monogenic mutations play a major role in the development of isolated (non-syndromic) non-obstructive azoospermia (NOA) in Japanese men with a normal 46, XY karyotype? SUMMARY ANSWER: Deleterious CNVs in the AZF regions and damaging sequence variants in eight genes likely constitute at least 8% and approximately 8% of the genetic causes, respectively, while variants in other genes play only a minor role...
March 20, 2024: Human Reproduction
#8
JOURNAL ARTICLE
Nameer Hashim Qasim, Abzal Zhumagaliuly, Rabiga Khozhamkul, Fakher Rahim
Zygotic Genome Activation (ZGA) is a crucial developmental milestone in early embryogenesis, marking the transition from maternal to embryonic control of development. This process, which varies in timing across species, involves the activation of the embryonic genome, paving the way for subsequent cell differentiation and organismal development. Recent advances in genomics and reproductive medicine have highlighted the potential of ZGA in the realm of genetic screening, providing a window into the genetic integrity of the developing embryo at its earliest stages...
March 2024: Journal, Genetic Engineering & Biotechnology
#9
JOURNAL ARTICLE
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked Ohdo syndrome is caused by loss of function mutation in MED12 gene on X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation of the MED12 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit...
March 13, 2024: Stem Cell Research
#10
Natalie Fabrizio, Christopher L Pankey, Kathleen Martin, Michael Baker, Cameron Clark Felty
Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated...
2024: Autopsy & Case Reports
#11
Pratima Gurung, James P McGee, Jeffrey D Dvorin
UNLABELLED: Condensin I is a pentameric complex that regulates the mitotic chromosome assembly in eukaryotes. The kleisin subunit CAP-H of the condensin I complex acts as a linchpin to maintain the structural integrity and loading of this complex on mitotic chromosomes. This complex is present in all eukaryotes and has recently been identified in Plasmodium spp . However, how this complex is assembled and whether the kleisin subunit is critical for this complex in these parasites is yet to be explored...
February 29, 2024: bioRxiv
#12
JOURNAL ARTICLE
Paul Salnikov, Alexey Korablev, Irina Serova, Polina Belokopytova, Aleksandra Yan, Yana Stepanchuk, Savelii Tikhomirov, Veniamin Fishman
Structural variations are a pervasive feature of human genomes, and there is growing recognition of their role in disease development through their impact on spatial chromatin architecture. This understanding has led us to investigate the clinical significance of CNVs in noncoding regions that influence TAD structures. In this study, we focused on the Epb41l4a locus, which contains a highly conserved TAD boundary present in both human chromosome 5 and mouse chromosome 18, and its association with neurodevelopmental phenotypes...
March 4, 2024: Scientific Reports
#13
JOURNAL ARTICLE
Cui-Li Liang, Guo-Chang Liu, Jing Cheng, Hui-Lin Niu, Wen Fu, Li-Yu Zhang, Wei Jia, Wen Zhang, Li Liu
OBJECTIVES: To investigate the value of the human chorionic gonadotropin (hCG) stimulation test in the diagnosis of disorder of sexual development (DSD) in children. METHODS: A retrospective analysis was conducted on 132 children with DSD. According to the karyotype, they were divided into three groups: 46,XX group ( n =10), 46,XY group ( n =87), and sex chromosome abnormality group ( n =35). The above groups were compared in terms of sex hormone levels before and after hCG stimulation test, and the morphological manifestation of the impact of testicular tissue on the results of the hCG stimulation test was analyzed...
February 15, 2024: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
#14
JOURNAL ARTICLE
Antonia Christodoulaki, Haitang He, Min Zhou, Chloë De Roo, Machteld Baetens, Tine De Pretre, Muhammad Fakhar-I-Adil, Björn Menten, Ann Van Soom, Dominic Stoop, Annekatrien Boel, Björn Heindryckx
STUDY QUESTION: Is pronuclear transfer (PNT) capable of restoring embryo developmental arrest caused by cytoplasmic inferiority of in vitro -grown (IVG) mouse oocytes? SUMMARY ANSWER: PNT to in vivo matured cytoplasm significantly improved embryo development of IVG mouse oocytes, leading to living, fertile offspring. WHAT IS KNOWN ALREADY: In vitro follicle culture has been considered as a fertility preservation option for cancer patients...
2024: Human Reproduction Open
#15
REVIEW
Debananda Pati
Cell division is a crucial process, and one of its essential steps involves copying the genetic material, which is organized into structures called chromosomes. Before a cell can divide into two, it needs to ensure that each newly copied chromosome is paired tightly with its identical twin. This pairing is maintained by a protein complex known as cohesin, which is conserved in various organisms, from single-celled ones to humans. Cohesin essentially encircles the DNA, creating a ring-like structure to handcuff, to keep the newly synthesized sister chromosomes together in pairs...
February 22, 2024: Cellular and Molecular Life Sciences: CMLS
#16
REVIEW
Lucie C S Aman, Suzannah D Lester, Anthony J Holland, Paul C Fletcher
BACKGROUND: Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression occurs as a consequence of a deletion on the chromosome 15 of paternal origin (ca. 70%), a chromosome 15 maternal uniparental disomy (mUPD; ca. 25%), or an imprinting centre defect (IC; ca. 1-3%). At birth, individuals with PWS are severely hypotonic and fail to thrive...
February 15, 2024: Orphanet Journal of Rare Diseases
#17
JOURNAL ARTICLE
Joshua Lamantia, Kourtney Sloan, Joseph M Wallace, Randall J Roper
Down syndrome (DS), affecting ~1 in 800 live births, is caused by the triplication of human chromosome 21 (Hsa21). Individuals with DS have skeletal features including craniofacial abnormalities and decreased bone mineral density (BMD). Lowered BMD can lead to increased fracture risk, with common fracture points at the femoral neck and lumbar spine. While the femur has been studied in DS mouse models, there is little research done on the vertebrae despite evidence that humans with DS have affected vertebrae...
February 7, 2024: Bone
#18
JOURNAL ARTICLE
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A Allan, David J Amor, Siddharth Banka, Donald G Basel, Laura D Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P Gilfillan, Nina B Gold, Karen W Gripp, Emma Hobson, Alexander M Holtz, A Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E Posey, Rhonda E Schnur, Marie Shaw, Elliot Stolerman, Julie P Taylor, Erin Wadman, Emma Wakeling, Susan M White, Lawrence C Wong, James R Lupski, Olivier Lichtarge, Mark A Corbett, Jozef Gecz, Charles M Nicolet, Peggy J Farnham, Cheol-Hee Kim, Marwan Shinawi
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families...
February 5, 2024: American Journal of Human Genetics
#19
Shirley M Gandhi, Pruthvi Patel, Taylor Carter, Larry Stutts
Patau syndrome (trisomy 13) is a chromosomal abnormality with multiple malformations due to an additional copy of chromosome 13. This genetic condition has a systemic impact on the development of the human body, which can result in, but is not limited to, microphthalmia, microcephaly, low-set ears, cleft palate, cardiac abnormalities, and abdominal wall defects. It is associated with severe physical and intellectual disabilities and a limited lifespan. Here, we present a 29-year-old female with a high suspicion of the mosaic form of Patau syndrome...
January 2024: Curēus
#20
REVIEW
Gerard Campos, Romualdo Sciorio, Steven Fleming
The implementation of next generation sequencing (NGS) in preimplantation genetic testing for aneuploidy (PGT-A) has led to a higher prevalence of mosaic diagnosis within the trophectoderm (TE) sample. Regardless, mosaicism could potentially increase the rate of live-born children with chromosomic syndromes, though available data from the transfer of embryos with putative PGT-A mosaicism are scarce but reassuring. Even with lower implantation and higher miscarriage rates, mosaic embryos can develop into healthy live births...
December 21, 2023: Genes
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