Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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.

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8.

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.

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9.

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

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10.

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.

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11.

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.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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.

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19.

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

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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.

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21.

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

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22.

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

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23.

Orphanet article

Orphanet ID 119882 [^]
24.

NCBI article

NCBI 6777 [^]
25.

OMIM.ORG article

Omim 604260 [^]
Update: 29. April 2019