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.


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


Modifikatoren der Glaukomausprägung



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.


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


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.


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.


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.


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


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


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.


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.


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


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


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


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


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

Update: 23. Juni 2016