Retroposition in a family of carcinoma-associated antigen genes

The gene encoding the carcinoma-associated antigen defined by the monoclonal antibody GA733 is a member of a family of at least two type I membrane proteins. This study describes the mechanism of evolution of the GA733-1 and GA733-2 genes. A full-length cDNA clone for GA733-1 was obtained by screening a human placental library with a genomic DNA probe. Comparative analysis of the cDNA sequence with the previously determined genomic sequence confirmed that GA733-1 is an intronless gene. The GA733-2 gene encoding the monoclonal antibody-defined antigen was molecularly cloned with a cDNA probe and partially sequenced. Comparison of GA733-2 gene sequences with the previously established cDNA sequence revealed that this gene consists of nine exons. The putative promoter regions of the GA733-1 and GA733-2 genes are unrelated. These findings suggest that the GA733-1 gene was formed by the retroposition of the GA733-2 gene via an mRNA intermediate. Prior to retroposition, the GA733-2 gene had been affected by exon shuffling. Analysis of GA733-2 exons revealed that many delineate structural motifs. The GA733-1 retroposon was localized either to chromosome region 1p32-1p31 or to 1p13-1q12, and the GA733-2 founder gene was localized to chromosome 4q.

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Activins regulate 17β-hydroxysteroid dehydrogenase type I transcription in murine gonadotrope cells

Journal of Endocrinology ◽

10.1677/joe-08-0460 ◽

2009 ◽

Vol 201 (1) ◽

pp. 89-104 ◽

Cited By ~ 6

Author(s):

Beata Bak ◽

Laura Carpio ◽

Jinjing L Kipp ◽

Pankaj Lamba ◽

Ying Wang ◽

...

Keyword(s):

Granulosa Cells ◽

Intracellular Signaling ◽

Cell Types ◽

Hydroxysteroid Dehydrogenase ◽

Activin A ◽

Type I ◽

Promoter Regions ◽

Gene Encoding ◽

17Β Estradiol ◽

Smad Binding Element

Activins are pleiotropic members of the TGFβ superfamily and were initially characterized based on their abilities to stimulate FSH synthesis and secretion by gonadotrope cells of the anterior pituitary gland. Here, we identified the gene encoding the steroidogenic enzyme, 17β-hydroxysteroid dehydrogenase type I (17β-HSD1; Hsd17b1), as an activin-responsive gene in immortalized gonadotrope cells, LβT2. 17β-HSD1 catalyzes the conversion of estrone to the more active 17β-estradiol, and activin A stimulated an increase in this enzymatic activity in these cells. We demonstrated that activins signaled via the type I receptor, activin receptor-like kinase (ALK4), and the intracellular signaling protein, SMAD2, to regulate Hsd17b1 transcription in immediate-early fashion. Critical cis-elements, including a minimal SMAD-binding element, were mapped to within 100 bp of the start of transcription. Activin/ALK4 signaling also regulated Hsd17b1 transcription in both immortalized and primary cultured murine granulosa cells. The promoter regions mediating basal and activin/ALK4-regulated promoter activity were generally conserved across the different cell types. The data show that activin A rapidly regulates Hsd17b1 transcription in gonadotrope and granulosa cells and may thereby regulate local 17β-estradiol synthesis.

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Identification of a single-copy gene encoding a Type I chlorophyll a/b-binding polypeptide of photosystem I in Arabidopsis thaliana

Physiologia Plantarum ◽

10.1034/j.1399-3054.1992.840410.x ◽

1992 ◽

Vol 84 (4) ◽

pp. 561-567 ◽

Cited By ~ 1

Author(s):

Poul E. Jensen ◽

Michael Kristensen ◽

Tine Hoff ◽

Jan Lehmbeck ◽

Bjarne M. Stummann ◽

...

Keyword(s):

Arabidopsis Thaliana ◽

Chlorophyll A ◽

Photosystem I ◽

Single Copy ◽

Type I ◽

Single Copy Gene ◽

Gene Encoding ◽

Copy Gene

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Faculty Opinions recommendation of Folding and organization of a contiguous chromosome region according to the gene distribution pattern in primary genomic sequence.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1033520.387895 ◽

2006 ◽

Author(s):

Tom Misteli

Keyword(s):

Distribution Pattern ◽

Genomic Sequence ◽

Chromosome Region ◽

Gene Distribution

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Identification of the Functional Promoter Regions in the Human Gene Encoding the Myosin Alkali Light Chains MLC1 and MLC3 of Fast Skeletal Muscle

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)71593-7 ◽

1989 ◽

Vol 264 (27) ◽

pp. 16109-16117

Author(s):

U Seidel ◽

H H Arnold

Keyword(s):

Skeletal Muscle ◽

Human Gene ◽

Light Chains ◽

Fast Skeletal Muscle ◽

Promoter Regions ◽

Gene Encoding

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Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2

Journal of Personalized Medicine ◽

10.3390/jpm11060526 ◽

2021 ◽

Vol 11 (6) ◽

pp. 526

Author(s):

Yejin Lee ◽

Youn Jung Kim ◽

Hong-Keun Hyun ◽

Jae-Cheoun Lee ◽

Zang Hee Lee ◽

...

Keyword(s):

Collagen Type ◽

Molecular Genetic ◽

Collagen Type I ◽

Type I ◽

Dentinogenesis Imperfecta ◽

Gene Encoding ◽

Korean Families ◽

Whole Exome ◽

Genes Encoding ◽

Candidate Gene Sequencing

Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G>A, p.(Gly1078Asp) in Family 1 and c.1171G>A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP.

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Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)98346-8 ◽

1993 ◽

Vol 268 (13) ◽

pp. 9275-9279

Author(s):

P.A. Powers ◽

S. Liu ◽

K. Hogan ◽

R.G. Gregg

Keyword(s):

Skeletal Muscle ◽

Molecular Characterization ◽

Gene Structure ◽

Human Skeletal Muscle ◽

Cdna Sequence ◽

Chromosomal Location ◽

Gene Encoding ◽

Gamma Subunit

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Characterization of Gmhsp26-A, a stress gene encoding a divergent heat shock protein of soybean: heavy-metal-induced inhibition of intron processing.

Molecular and Cellular Biology ◽

10.1128/mcb.8.3.1113 ◽

1988 ◽

Vol 8 (3) ◽

pp. 1113-1122 ◽

Cited By ~ 91

Author(s):

E Czarnecka ◽

R T Nagao ◽

J L Key ◽

W B Gurley

Keyword(s):

Amino Acid ◽

Heat Shock ◽

Amino Acid Sequence ◽

Genomic Sequence ◽

Stress Protein ◽

Initiation Site ◽

Gene Encoding ◽

S1 Nuclease ◽

Soybean Seedlings ◽

Nuclease Mapping

We determined the DNA sequence and mapped the corresponding transcripts of a genomic clone containing the Gmhsp26-A gene of soybean. This gene is homologous to the previously characterized cDNA clone pCE54 (E. Czarnecka, L. Edelman, F. Schöffl, and J. L. Key, Plant Mol. Biol. 3:45-58, 1984) and is expressed in response to a wide variety of physiological stresses including heat shock (HS). S1 nuclease mapping of transcripts and a comparison of the cDNA sequence with the genomic sequence indicated the presence of a soybean seedlings with either CdCl2 or CuSO4. Analysis of the 5' termini of transcripts indicated the presence of one major and at least two minor start sites. In each case, initiation occurred 27 to 30 base pairs downstream from a TATA-like motif, and thus each initiation site appears to be promoted by the activity of a separate subpromoter. The three subpromoters are all associated with sequences showing low homology to the HS consensus element of Drosophila melanogaster HS genes and are differentially induced in response to various stresses. Within the carboxyl-terminal half of the protein, hydropathy analysis of the deduced amino acid sequence indicated a high degree of relatedness to the small HS proteins. A comparison of the primary amino acid sequence of hsp26-A with sequences of the small HS proteins suggested that this stress protein is highly diverged and may therefore be specialized for stress adaptation in soybean.

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The gene encoding the transcription factor SCIP has features of an expressed retroposon.

Molecular and Cellular Biology ◽

10.1128/mcb.11.9.4642 ◽

1991 ◽

Vol 11 (9) ◽

pp. 4642-4650 ◽

Cited By ~ 36

Author(s):

R Kuhn ◽

E S Monuki ◽

G Lemke

Keyword(s):

Transcription Factor ◽

Schwann Cells ◽

Cpg Island ◽

Single Copy ◽

Gene Encoding ◽

Intronless Gene ◽

Gene Comparison ◽

Acid Protein ◽

Central Nervous Systems ◽

Glial Progenitor Cells

SCIP is a POU domain transcription factor expressed by glial progenitor cells in the peripheral and central nervous systems (dividing Schwann cells and O-2A cells, respectively), where it appears to act as a repressor of myelin-specific genes. We have isolated genomic clones encoding the rat SCIP gene. Comparison of the structure of these clones with genomic Southern blots and SCIP cDNAs demonstrates that SCIP is encoded in a single-copy, intronless gene that has the general features of an expressed retroposon. This gene contributes to an extended CpG island. It is transcribed to produce a 3.1-kb mRNA that encodes a 451-amino-acid protein with a predicted molecular mass of 45 kDa. Immunopurified SCIP antibodies specifically recognize a nuclear protein of this size in cultured proliferating Schwann cells, and gel shift analyses demonstrate that this protein is the predominant octamer-binding protein in these cells.

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