Relationship between smc1a and chromosome related disease

These include Cajal bodiesGemini of coiled bodies, polymorphic interphase karyosomal association PIKApromyelocytic leukaemia PML bodies, paraspecklesand splicing speckles. Although little is known about a number of these domains, they are significant in that they show that the nucleoplasm is not a uniform mixture, but rather contains organized functional subdomains.

Relationship between smc1a and chromosome related disease

The relationship between SMC1A phosphorylation expression and clinicpathological parameters of these patients were analysed. Semiquantitative immunohistochemical analysis revealed a 2. Discussion As a key structural maintenance of chromosomes protein, SMC1 is involved in variety of biological processes, including the regulation of chromosome dynamics [ 6 - 8 ], cell cycle progression [ 89 ], DNA double strand break repair [ 10 - 12 ], and genomic stability maintenance [ 1314 ].

Four core subunits of cohesin are known in budding yeast, two subunits of the structural maintenance of chromosomes SMC family, Smc1 and Smc3, and two sister chromatid cohesion SCC proteins, Scc1 and Scc3[ 2526 ].

After S-phase, it is vital that the products of DNA replication, the sister chromatids, are handled as a unit; they must be held together by cohesion. During mitosis, the bipolar attachment of sister chromatids to the mitotic spindle determines their segregation pattern, and correct spindle attachment is, therefore, crucial for equal distribution of the genome.

Click on the image to enlarge. There has been growing evidence that the molecule plays an important role in tumorigenesis. Furthermore, overexpression of the protein has been found in advanced diseases and associated with a poor prognosis [ 21 ]. On the contrary, the expression of SMC1A is reversely correlated with the clinical outcomes in acute myeloid leukemia [ 21 ].

Thus, the data thus far suggest that SMC1A might play a dual role in tumorigenesis and progression, acting as a promoter in solid tumors and an inhibitor in hematologic malignancies.

The significance of SMC1A in hepatocellular carcinogenesis has not been previously studied. Given that phosphorylation of SMC1A is a crucial event in its regulation of the diverse biological processes, DNA damage repair, and tumorigenesis [ 1423 ], we first examined the expression of phosphorylated SMC1A in a number of human carcinoma cell lines, including HepG2, Bel, A, Hela and H In addition, our results also showed phosphorylated SMC1A promotes hepatocellular carcinoma cells growth in vivo.

These findings have further confirmed the essential role of SMC1A phosphorylation on serine and in regulating the proliferation, survival and migration of HCC cells.

The utmost principal observations in this study are the significantly higher expression of phosphorylated SMC1A in human HCC cells when compared to peri-tumoral benign hepatocytes, and the significantly increased expression of the protein in advanced HCC when compared to early-staged diseases.

Attesting to its function as a prognostic factor, a higher phosphorylated SMC1A expression was associated with significantly worse survival outcomes when compared to those with a lower expression level.

Thus, the collective findings imply that inhibition of SMC1A may serve as a promising therapeutic target, especially for advanced HCC, thus necessitating further investigation in the pursuit of precision medicine.

The plasmids were identified by sequencing and transfected into HepG2 and Bel cells using lipofectamine regent Thermo Fisher Scientific, USA according to the instruction.

The experiments were carried out 24 h or 48 h after transfection. The mediums with lentiviral particles were separately harvested at 24 h, 48 h and 72 h after transfection. Then, after 24 h of infection, the medium with lentivirus particles was replaced with refresh growth medium. Tumors were cultivated for 32 days and the tumor volume was measured every 4 days.

All animal experiments were approved by the Committee of China Medical University. The secondary antibody with horseradish peroxidase HRP -conjugated were incubated for 1 h at room temperature. The signals were developed with Tanon, China.

The number of migrating cells was the average value of total 5 random fields cells. SMC1A phosphorylation expression was indentified in 78 cases with detailed patient clinical stage and survival information.

Immunohistochemical IHC analysis The paraffin-embedded sections were deparaffinized with xylene and rehydrated in dH2O. Antigen retrieval was carried out with high pressure heating in citrate buffer pH 6. Nuclear immunoreactivity was semiquantitated by evaluating the percentage of positive-staining tumor cells over total tumor cells.

The scores were evaluated by two persons and mean values were analyzed statistically. Statistical analysis Descriptive statistics were calculated for all the variables, including continuous variables reported as mean values and standard deviations and categorical variables reported as numbers and percentages.

Relationship between smc1a and chromosome related disease

Participators were divide into two different groups according to SMC1A phosphorylation immunostaining as Low and High Genes and human disease Introduction The human body is made up of millions of cells each specialising in a particular function like the sensing light and smell or even the absorption of oxygen into the blood.

1. Key Laboratory of Medical Cell Biology, Ministry of Education; Institute of Translational Medicine, China Medical University; Liaoning Province Collaborative Innovation Center of Aging Related Disease Diagnosis and Treatment and Prevention, Shenyang, Liaoning Province, China 2.

Footnotes * Medically necessary if results of the adrenocortical profile following cosyntropin stimulation test are equivocal or for purposes of genetic counseling.. Footnotes ** Electrophoresis is the appropriate initial laboratory test for individuals judged to be at-risk for a hemoglobin disorder..

In the absence of specific information regarding advances in the knowledge of mutation.

What is the relationship between DNA and genes?no. print Print; This can cause a disease or death in an organism. Describe the relationship between cells, chromosomes, genes, and DNA. Nov 20,  · Cornelia de Lange Syndrome aka CdLS is a rare disease affects 1 in 10, to 30, newborn babies.


It involves many parts of the body, and produces a wide range of signs and symptoms of varying 5/5(1). To date, the three genes, NIPBL, SMC1A, and SMC3 involving in chromosome function, gene regulation and double-stranded DNA repair, could cause CdLS when mutated[6, 7].

Six in ten of the probands with CdLS have heterozygous mutations in NIPBL gene, whereas 5% have mutations in SMC1A and SMC3 genes [ 6, 8 ].

Phosphorylation of SMC1A promotes hepatocellular carcinoma cell proliferation and migration