Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Signalünerträger und Aktivator der Transkription 5B

Das STAT5B-Gen kodiert einen Transkriptionsfaktor der insbesondere für die Signalübertragung vom Wachstumshormonrezeptor ene Bedeutung besitzt. Funktionsmindernde Mutationen führen zur autosomal rezessiven Erkrankung der Wachstumshormoninsensitivität mit Immundefizit.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

Arnould C et al. (1999) The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

[^]
2.

Schwaller J et al. (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2.

[^]
3.

Miyoshi K et al. (2001) Structure of the mouse Stat 3/5 locus: evolution from Drosophila to zebrafish to mouse.

[^]
4.

Ambrosio R et al. (2002) The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.

[^]
5.

Mak IY et al. (2002) Regulated expression of signal transducer and activator of transcription, Stat5, and its enhancement of PRL expression in human endometrial stromal cells in vitro.

[^]
6.

Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.

[^]
7.

Snow JW et al. (2003) Loss of tolerance and autoimmunity affecting multiple organs in STAT5A/5B-deficient mice.

[^]
8.

Crispi S et al. (2004) Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation.

[^]
9.

Brawley C et al. (2004) Regeneration of male germline stem cells by spermatogonial dedifferentiation in vivo.

[^]
10.

Cui Y et al. (2004) Inactivation of Stat5 in mouse mammary epithelium during pregnancy reveals distinct functions in cell proliferation, survival, and differentiation.

[^]
11.

Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

[^]
12.

Wawersik M et al. (2005) Somatic control of germline sexual development is mediated by the JAK/STAT pathway.

[^]
13.

Yao Z et al. (2006) Stat5a/b are essential for normal lymphoid development and differentiation.

[^]
14.

Fang P et al. (2006) A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.

[^]
15.

Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.

[^]
16.

Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency.

[^]
17.

Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.

[^]
18.

Hwa V et al. (2007) Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.

[^]
19.

Vignudelli T et al. (2010) ZFP36L1 negatively regulates erythroid differentiation of CD34+ hematopoietic stem cells by interfering with the Stat5b pathway.

[^]
20.

Lin JX et al. (1996) Cloning of human Stat5B. Reconstitution of interleukin-2-induced Stat5A and Stat5B DNA binding activity in COS-7 cells.

[^]
21.

Wang D et al. (1996) Naturally occurring dominant negative variants of Stat5.

[^]
22.

Boucheron C et al. (1998) A single amino acid in the DNA binding regions of STAT5A and STAT5B confers distinct DNA binding specificities.

[^]

 

 
Ihre Nachricht: