Characterization of two new members of the pregnancy-specific .beta.1-glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit

Barnett, Thomas; Pickle, William; Elting, James J.

doi:10.1021/bi00496a009

Cited by 10 publications

(5 citation statements)

References 34 publications

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“…Most of the six isoforms contain between 13 and 16 exons; however, shorter isoforms are also reported in the Consensus CDS Protein Set. CLN3 isoform a consists of 438 amino acids (aa), and is encoded by the longest transcript variant 1 (NM_001042432.1) (Barnett, Pickle, & Elting, ) and 2 (NM_000086.2), 1915 bp and 1879 bp, respectively. Transcript variant 3 (NM_001286104.1) encodes for isofom b (NP_001273033.1) which lacks an alternate in‐frame exon resulting in a shorter protein of 414 aas.…”

Section: General Informationmentioning

confidence: 99%

The CLN3 gene and protein: What we know

Mirza¹,

Vainshtein

DiRonza

et al. 2019

Molec Gen & Gen Med

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Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental understanding of the CLN3 gene, its regulation, gene product, protein structure, tissue distribution, biomarker use, and pathological responses to its deficiency, lays the groundwork for determining therapeutic action plans. Objectives To present an unbiased comprehensive reference tool of the experimental understanding of the CLN3 gene and gene product of the same name. Methods BBDF compiled all of the available CLN3 gene and protein data from biological databases, repositories of federally and privately funded projects, patent and trademark offices, science and technology journals, industrial drug and pipeline reports as well as clinical trial reports and with painstaking precision, validated the information together with experts in Batten disease, lysosomal storage disease, lysosome/endosome biology. Results The finished product is an indexed review of the CLN3 gene and protein which is not limited in page size or number of references, references all available primary experiments, and does not draw conclusions for the reader. Conclusions Revisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long‐held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works.

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Section: General Informationmentioning

confidence: 99%

The CLN3 gene and protein: What we know

Mirza¹,

Vainshtein

DiRonza

et al. 2019

Molec Gen & Gen Med

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“…Many studies to determine expression of CEA-related genes at the transcriptional level have applied the Northern blot technique( 10, 44,54,57,58,61,65,[95][96][97][98][99][100][101][102][103][104][105][106][107]. Using this approach, and with the help of gene-specific or subgroup-specific DNA probes, a number of mRNA species varying in size have been identified in different tumors and some normal tissues.…”

Section: Expression Pamerns Of Cearelated Genes In Humansmentioning

confidence: 99%

Carcinoembryonic antigen gene family: Molecular biology and clinical perspectives

Thompson

Fritz

Zimmermann

1991

Clinical Laboratory Analysis

557

389

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The carcinoembryonic antigen (CEA) gene family belongs to the immunoglobulin supergene family and can be divided into two main subgroups based on sequence comparisons. In humans it is clustered on the long arm of chromosome 19 and consists of approximately 20 genes. The CEA subgroup genes code for CEA and its classical crossreacting antigens, which are mainly membrane-bound, whereas the other subgroup genes encode the pregnancy-specific glycoproteins (PSG), which are secreted. Splice variants of individual genes and differential post-translational modifications of the resulting proteins, e.g., by glycosylation, indicate a high complexity in the number of putative CEA-related molecules. So far, only a limited number of CEArelated antigens in humans have been unequivocally assigned to a specific gene.Rodent CEA-related genes reveal a high sequence divergence and, in part, a completely different domain organization than the human CEA gene family, making it difficult to determine individual gene counterparts. However, rodent CEA-related genes can be assigned to human subgroups based on similarity of expression patterns, which is characteristic for the subgroups. Various functions have been determined for members of the CEA subgroup in vitro, including cell adhesion, bacterial binding, an accessory role for collagen binding or ecto-ATPases activity.Based on all that is known so far on its biology, the clinical outlook for the CEA family has been reassessed.

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“…Taken together these analyses demonstrate that CGM11 contains a mixture of exons [38], the PSG4 cDNA [59], the PSG7 gene [39] and the PSG8 gene [40]. Gaps introduced to maximize the alignments are shown by dots.…”

Section: The Cgm11 Genementioning

confidence: 94%

Evolution of the Carcinoembryonic Antigen Family

Frängsmyr¹,

Israelsson²,

Teglund³

et al. 2000

Tumor Biol

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Earlier studies have demonstrated that the genes of the human carcinoembryonic antigen (CEA) family can be divided into three subgroups, the CEA subgroup (n = 12), the pregnancy-specific glycoprotein (PSG) subgroup (n = 11), and a third subgroup (n = 6). To further characterize the CEA gene family, we have determined the genomic structures of CGM9 and CGM11, analyzed the promoter regions of all eleven PSGs, studied the CGM15-PSG13 intergenic region and the evolutionary relationships beween the CEA family genes. CGM9, a typical CEA subgroup member, was a pseudogene with the exon structure [5′UTR-L-L/N-TM-Cyt-3′UTR]. CGM11 contained a mixture of exons derived from CEA and PSG subgroup genes. The formula of the CGM11 pseudogene was [5′UTR-L-L/N-C-3′UTR]. Thus both genes lacked the IgC2-like domains typically found in CEA subfamily members. The upstream promoter regions of all eleven PSGs were characterized. All PSG promoters lacked the classical TATA and CCAAT elements, but had putative PEA3 box(es), CACCC box(es), a RARE box, and poly (dG-dT) repeats of different lengths. Five PSGs also had an SP1 site. The complete 10-kb intergenic region between CGM15 and PSG13 was sequenced. Clusters of different types of repetitive sequences were seen. The time of divergence of the CEA and PSG subfamilies was estimated to be 107.7 ± 17.1 million years, or at about the time of human-rodent divergence. Models for the evolution of CEA and PSG and the third family subgroup genes are proposed.

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Characterization of two new members of the pregnancy-specific .beta.1-glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit

Cited by 10 publications

References 34 publications

The CLN3 gene and protein: What we know

The CLN3 gene and protein: What we know

Carcinoembryonic antigen gene family: Molecular biology and clinical perspectives

Evolution of the Carcinoembryonic Antigen Family

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