Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Schwere Kette 1 des zytoplasmatischen Dyneins

Das DYNC2H1-Gen kodiert ein Dynein, welches für den intraflagellären Transport verantwortlich ist. Mutationen verursachen das autosomal rezessive oder digenisch rezessive SRTD-Syndrom 3.

Diagnostik:

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

Krankheiten:

SRTD-Syndrom (Short-rib thoracic dysplasia) 03
DYNC2H1

Referenzen:

1.

Gibbons BH et. al. (1994) Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins.

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2.

Vaisberg EA et. al. (1996) Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles.

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3.

Vaughan KT et. al. (1996) Multiple mouse chromosomal loci for dynein-based motility.

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4.

Criswell PS et. al. (1996) A novel cytoplasmic dynein heavy chain: expression of DHC1b in mammalian ciliated epithelial cells.

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5.

Kastury K et. al. (1997) Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.

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6.

Criswell PS et. al. (1998) Evidence for four cytoplasmic dynein heavy chain isoforms in rat testis.

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7.

Pazour GJ et. al. (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes.

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8.

Merrill AE et. al. (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

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9.

Dagoneau N et. al. (2009) DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

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10.

Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

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11.

Ocbina PJ et. al. (2011) Complex interactions between genes controlling trafficking in primary cilia.

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12.

El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

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13.

Schmidts M et. al. (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

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14.

Schmidt H et. al. (2015) Structure of human cytoplasmic dynein-2 primed for its power stroke.

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Update: 26. September 2018

 

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