A5021524676- Sperm and Testicular Function
- Trace Elements in Health
- Iron Metabolism and Disorders
- Reproductive Biology and Fertility
- Aquatic Invertebrate Ecology and Behavior
- Heavy Metal Exposure and Toxicity
- Invertebrate Taxonomy and Ecology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Peroxisome Proliferator-Activated Receptors
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Heat shock proteins research
- Study of Mite Species
- Leech Biology and Applications
- Animal Genetics and Reproduction
- RNA modifications and cancer
- Forensic and Genetic Research
- Genomic variations and chromosomal abnormalities
- Protein Degradation and Inhibitors
- Genetic and Kidney Cyst Diseases
- Prenatal Screening and Diagnostics
- Insect Resistance and Genetics
- Congenital heart defects research
- Marine Biology and Ecology Research
- Insect and Arachnid Ecology and Behavior
Jagiellonian University
2014-2023
Czech Academy of Sciences, Institute of Computer Science
2017
Lublin University of Technology
2017
University of Göttingen
2001-2014
Institute of Human Genetics
2014
European Neuroscience Institute Göttingen
2012
The caseinolytic peptidase P (CLPP) is conserved from bacteria to humans. In the mitochondrial matrix, it multimerizes and forms a macromolecular proteasome-like cylinder together with chaperone CLPX. spite of known relevance for unfolded protein response, its substrates tissue-specific roles are unclear in mammals. Recessive CLPP mutations were recently observed human Perrault variant ovarian failure sensorineural hearing loss. Here, first characterization null mice demonstrated complete...
Sperm motility and hence male fertility strictly depends on proper development of the sperm tail its tight anchorage to head. The main protein outer dense fibers, ODF1/HSPB10, belongs family small heat shock proteins that function as molecular chaperones. However, impact ODF1 formation fecundity is unknown. We therefore generated mutant mice in which Odf1 gene was disrupted. Heterozygous are fertile while reduced, but Odf1-deficient infertile due detachment Although headless tails somehow...
Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated clinically relevant copy number variants (CNVs) well delineating criteria, which may help separating patients pathogenic CNVs from those without CNVs. We performed retrospective review of array CGH data 342...
The small heat shock protein ODF1/HSPB10 is essential for male fertility in mice. Targeted deletion of Odf1 resulted acephalic sperm homozygous mice mixed background (C57BL/6J//129/Sv), whereas heterozygous animals are fully fertile. To further elucidate the function ODF1, we generated incipient congenic with targeted by successive backcrossing on 129/Sv background. We observed that fecundity Odf1(+/-) was severely reduced over backcross generations. However, neither aberrant parameters nor...
Insulin-like factor 6 (INSL6), a member of the insulin-like superfamily, is predominantly expressed in male germ cells. Expression Insl6 first detected mouse testis at postnatal d 15 when wave spermatogenesis progresses to pachytene spermatocytes. To elucidate role INSL6 cell development, we generated Insl6-deficient mice. The majority males on hybrid genetic background exhibited impaired fertility, whereas females were fertile. number mature sperm and motility drastically reduced...
The protamine gene cluster containing the Prm1, Prm2, Prm3, and Tnp2 genes is present in humans, mice, rats. have been extensively studied, but almost nothing known about function regulation of Prm3 gene. Here we demonstrate that an intronless encoding a distinctive small acidic protein 13 species from seven orders mammals. We also has not generated retroposons, which supports contention are expressed meiotic haploid spermatogenic cells do generate retroposons. mRNA first detected early...
CHARGE syndrome is an autosomal dominant malformation caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial have been reported. In these families, mosaicism one parent, as well parent- to-child transmission a mutation, has described. some further cases, germline suggested. Here, we report first case which could be demonstrated father two affected children with syndrome. truncating mutation c.7302dupA exon 34 gene was found both but not detected...
Peroxisomal testis-specific 1 gene (Pxt1) is the only male germ cell–specific that encodes a peroxisomal protein known to date. To elucidate role of Pxt1 in spermatogenesis, we generated transgenic mice expressing c-MYC-PXT1 fusion under control PGK2 promoter. Overexpression resulted induction cells’ apoptosis mainly primary spermatocytes, finally leading infertility. This prompted us analyze proapoptotic character mouse PXT1, which harbors BH3-like domain N-terminal part. In different cell...
The mouse cyritestin gene is a member of the ADAM (adisintegrin and metalloprotease) family codes for membrane-anchored sperm protein. Recently, it was shown that critical male fertility in mouse. Spermatozoa cyritestin-deficient mice are not able to bind zona pellucida oocyte therefore unable fertilize egg. However, zona-free oocytes can be fertilized resulting embryos show normal development. In contrast mouse, where only one (Cyrn) reported, two genes (CYRN1 CYRN2) known humans. human...
To elucidate the role of mouse gene Tcte3 (Tctex2), which encodes a putative light chain outer dynein arm cilia and sperm flagella, we have inactivated this in mice using targeted disruption. Breeding heterozygous males females resulted normal litter size; however, were not able to detect homozygous Tcte3-deficent standard genotype techniques. In fact, our results indicate presence at least three highly similar copies (Tcte3-1, Tcte3-2, Tcte3-3) murine genome. Therefore, quantitative...
Abstract Shell biometry and cytochrome c oxidase subunit 1 (CO1) mtDNA were studied in Daphniola exigua (Schmidt, 1856), D. graeca Radoman, Citation1973, louisi Falniowski Szarowska, Citation2000 from Greece. Principal component analysis of shell morphometry confirmed the distinctness along PC3 axis. Kimura 2‐parameter (K2P) genetic distances within 0.016 0.003–0.008, respectively, all sequences identical. The distance between was 0.013–0.027. graeca, exigua, 0.098–0.110 0.091–0.096,...
PHF5A is a highly conserved protein from yeast to man, and based on studies in yeast, it was suggested that the homologous RDS3P <i>S. cerevisiae</i> takes part organization of U2 snRNP particles. By using two-hybrid assay we could demonstrate interacted both with ATP-dependent helicases EP400 DDX1 arginine-serine (RS)-rich domains splicing factors U2AF1 SFRS5 mouse. Furthermore, domain interaction revealed restricted N-terminal PHF5A, whereas C-terminal region found be...
The maintenance of copper homeostasis is critical for all cells. As learned from mice with disturbed metabolism, this trace element also important spermatogenesis. experiments conducted in yeasts have demonstrated that appropriate level must be preserved to enable meiosis progression; however, increased toxic This study aims analyze the expression profile Atp7a and Atp7b other genes encoding copper-related proteins during spermatogenesis mice. Using transcripts protein detection techniques,...
Many genes crucial for male fertility are often predominantly or exclusively expressed in germ cells. The analysis of mouse models has demonstrated the functional importance peroxisomes spermatogenesis. CCDC33 protein been reported to be a cancer/testis (CT) antigen. We found that <i>Ccdc33</i> is testis and undergoes alternative splicing produce at least 4 different transcripts. encoded by contains 3 coiled-coil domains, C2-domain, 2 ER membrane retention signal-like motifs...
In all living organisms trace element metabolism and transport are closely regulated at the genetic level. Copper is one of essential microelements required for normal growth development. The main organ in mammals involved copper liver. It known that liver controlled by ATP7B, a P-type ATP-ase encoded Atp7b gene. However, little about expression function second important ATP-ase, ATP7A Atp7a this study we investigated gene during postnatal development mice. We analyzed livers from neonatal...
The ubiquitination process is indispensable for proteome regulation. Three classes of ubiquitin (Ub)-related proteins can be distinguished: E1, E2 and E3. Proteins from the class are responsible transfer Ubls E1 to target protein. For this activity, interaction with E3 ligases usually required. Ub-conjugating enzyme E2Q 1 (UBE2Q1) belongs Ub-related enzymes demonstrated involved in regulation membrane B4GALT1 Here, we demonstrate that human UBE2Q1 mouse Ube2q1 widely expressed highly...
Jackson toxic milk mutant mice (tx-J) carrying a missense mutation in the Atp7b gene are animal models of Wilson disease. In both patients and tx-J mice, mutations ATP7B/Atp7b lead to disturbances copper metabolism. The dysfunction leads reduction incorporation into apoceruloplasmin; this decreases ferroxidase activity ceruloplasmin necessary for efflux iron from cells reduces release hepatocytes bile; results massive hepatic accumulation. A decrease emphasises practicality model exploration...
The mouse cyritestin gene is a member of the ADAM (adisintegrin and metalloprotease) family codes for membrane-anchored sperm protein. Recently, it was shown that critical male fertility in mouse. Spermatozoa cyritestin-deficient mice are not able to bind zona pellucida oocyte therefore unable fertilize egg. However, zona-free oocytes can be fertilized resulting embryos show normal development. In contrast mouse, where only one (Cyrn) reported, two genes (CYRN1 CYRN2) known humans. human...