The chromosomal aneuploidy in oocytes is one of main causes of abortion and neonatal birth defects.It is mainly due to the premature separation of sister chromatid caused by the loss of Cohesin protein complex and the non-disjunction sister chromatids caused by abnormal microtubule dynamics aneuploidy.As a pathway of protein post-translational modification,SUMO modification(or SUMOylation)involves many physiological regulation processes including cell proliferation,differentiation,apoptosis,and cycle regulation.In the oocytes,SUMOylation can regulate the localization of Cohesin protein complex on the chromosome to affect the chromosomal aneuploidy in oocytes caused by premature separation of sister chromatid.On the other hand,SUMOylation can regulate the microtubule dynamics to affect the chromosomal aneuploidy in oocytes caused by non-disjunction sister chromatids.Therefore,SUMOylation plays an important role in regulating the chromosomal aneuploidy of oocytes;the exact mechanisms via which the SUMOylated substrates affect aneuploidy in oocytes remain unclear.This articles reviews the roles of SUMOylation in premature separation and non-isolated chromatid aneuploidy in oocyte from the effects of SUMOylationon Cohesin protein complex and microtubule dynamics.
Aneuploidy ; Cell Cycle Proteins ; Chromatids ; Chromosomal Proteins, Non-Histone ; Chromosome Segregation ; Humans ; Microtubules ; Oocytes ; cytology ; Sumoylation

Animals ; Centromere ; metabolism ; Chromosomal Proteins, Non-Histone ; metabolism ; Mice ; Models, Molecular ; Synaptonemal Complex ; metabolism

Chromosomal Proteins, Non-Histone ; chemistry ; genetics ; metabolism ; HeLa Cells ; Histones ; chemistry ; genetics ; metabolism ; Humans ; Protein Domains

Humans ; Pancreatic Neoplasms/metabolism* ; Prognosis ; Adenosine Triphosphatases/metabolism* ; Chromosomal Proteins, Non-Histone/metabolism*

Humans ; Carcinoma, Squamous Cell/pathology* ; Chromosomal Proteins, Non-Histone/genetics* ; Ear, Middle/pathology* ; Poly-ADP-Ribose Binding Proteins ; Nuclear Proteins

In humans and most mammals, the sperm centrosome is primarily responsible for nucleating and organizing the sperm astar, which pushes the sperm head toward the oocyte center and guides the migration of the female pronucleus, completing the fertilization process. There are about 200 kinds of protein in the human sperm centrosome. Currently, most of the researches focus on the centrin protein. Further studies on the functions of different human sperm centrosomal proteins may contribute to the understanding of the causes of the failures in assisted reproductive technology (ART). And in ART, morphological observation of the sperm neck integrity is the only way for primary evaluation of the function of the sperm centrosome.
Calcium-Binding Proteins ; physiology ; Centrosome ; physiology ; Chromosomal Proteins, Non-Histone ; physiology ; Humans ; Male ; Reproductive Techniques, Assisted ; Spermatozoa ; cytology

To explore the magnetic resonance imaging (MRI) characteristics of glioma with Brg/Brm-associated factor 53a (BAF53a) expression.
 Methods: A total of 121 patients with glioma was divided into a BAF53a high expression group (n=79) and a low expression group (n=42) according to the results of immunohistochemistry. Then the MRI characteristics, including lesion location, number, boundary, maximum diameter, peripheral edema, midline structure shift, homogeneity, cystic necrosis, hemorrhage, strengthening degree, ependymal strengthening, pia mater enhancement, deep white matter invasion and lesion across the midline (total 14 items), were analyzed.
 Results: The results showed that there were significance difference in lesion border, lesion edema, enhancement of the lesion, and deep white matter invasion between the 2 groups (all P<0.05).
 Conclusion: The MRI characteristics, such as lesion border, lesion edema degree, enhancement degree of the lesion and deep white matter invasion, might be associated with BAF53a expression in gliomas.
Actins ; metabolism ; Brain Neoplasms ; Chromosomal Proteins, Non-Histone ; metabolism ; DNA-Binding Proteins ; metabolism ; Glioma ; Humans ; Magnetic Resonance Imaging ; Necrosis

<b>OBJECTIVEb>Rett syndrome (RTT) is a neurodevelopmental disorder which causes severe mental retardation. This study aimed at elucidating clinical features of 66 Chinese RTT cases diagnosed by The Department of Pediatric Neurology, Peking University First Hospital since 1987, and at analysis of the MeCP2 genotype / phenotype correlation.

<b>METHODSb>Sixty-six RTT cases were followed up every one to two years to get the information of their clinical manifestations and the response to the L-carnitine treatment which was administered to the patients at a dose of 80-100 mg/(kg d). MeCP2 mutation analysis by PCR and sequencing were performed on 39 cases.

<b>RESULTSb>In this cohort of cases, the onset of the disease occurred between 3 and 38 months of age, 89% of the cases lost their purposeful hand use at 7 months to six years of age, all the cases had stereotype hand movement which presented at 1 to 5 years of age, 85% of the cases lost language ability at 11 months to eight years of age, 21% of the cases lost the ability of walking at ages of 2 years and 9 months to 15 years. The symptoms/signs such as small head circumference, seizures, breathing irregularities, teeth grinding, scoliosis/ kyphosis were presented in many of the cases. The clinical manifestations were improved in 6 cases after L-carnitine treatment. MeCP2 gene mutation was found in 64% of the cases. Two cases with non-sense mutation C502t (amino acid change R168X) died, two cases with missense mutation C397T (amino acid change R133C) and one case with missense mutation A398T (amino acid change R133H) preserved several words.

<b>CONCLUSIONb>Deceleration of the head growth, loss of acquired purposeful hand use, stereotype hand movement and language deterioration were the main characteristics of RTT. L-carnitine could improve the clinical manifestation of some cases. There are some correlations between MeCP2 genotype and phenotype.

Adolescent ; Carnitine ; administration & dosage ; therapeutic use ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone ; genetics ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Follow-Up Studies ; Genotype ; Hospitals, University ; Humans ; Infant ; Male ; Methyl-CpG-Binding Protein 2 ; Mutation ; Phenotype ; Repressor Proteins ; genetics ; Rett Syndrome ; drug therapy ; genetics ; pathology ; Treatment Outcome

<b>OBJECTIVEb>To investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China.

<b>METHODSb>Polymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients.

<b>RESULTSb>Nine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter.

<b>CONCLUSIONb>Mutations in MECP2 gene were found over 50% of patients with RTT in China.

Base Sequence ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Infant ; Methyl-CpG-Binding Protein 2 ; Mutagenesis, Insertional ; Mutation ; Mutation, Missense ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins ; Rett Syndrome ; genetics ; Sequence Deletion

Animals ; Chromosomal Proteins, Non-Histone ; chemistry ; genetics ; metabolism ; Humans ; Models, Molecular ; Mutation ; Transcription Factors ; chemistry ; genetics ; metabolism