Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kollagen Typ XV, alpha 1

Das COL15A1-Gen kodiert ein Kollagen, welches ähnlich dem Kollagen IV aufgebaut ist und ebenso wie dieses in den Basalmembranen vorkommt. Mutationen können die klinische Ausprägung von Glaukomen beeinflussen.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Modifikatoren der Glaukomausprägung
COL15A1
COL18A1

Referenzen:

1.

Myers JC et. al. (1992) Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region.

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2.

Huebner K et. al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.

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3.

Kivirikko S et. al. (1994) Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene.

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4.

Rehn M et. al. (1994) Primary structure of the alpha 1 chain of mouse type XVIII collagen, partial structure of the corresponding gene, and comparison of the alpha 1(XVIII) chain with its homologue, the alpha 1(XV) collagen chain.

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5.

Muragaki Y et. al. (1994) The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen.

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6.

Myers JC et. al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones.

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7.

Hägg PM et. al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney.

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8.

Hägg PM et. al. (1997) Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3. Comparison of mouse and human alpha 1 (XV) collagen sequences indicates divergence in the number of small collagenous domains.

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9.

Hägg PM et. al. (1998) Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene.

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10.

Ramchandran R et. al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.

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11.

Sasaki T et. al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.

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12.

Eklund L et. al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice.

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13.

Rasi K et. al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy.

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14.

Connelly JJ et. al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

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