BMPRIB

BMPRIB

A gene on chromosome 4q22-q24 that encodes a member of the type-I bone morphogenetic protein (BMP)-receptor family of transmembrane serine/threonine kinases, which binds BMPs and plays a central role in endochondral bone formation and embryogenesis. Type-I receptors require their respective type-II receptors for ligand binding. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate then bind and activate SMAD transcriptional regulators.

Molecular pathology
BMPRIB mutations are associated with primary pulmonary hypertension and brachydactyly type 2A.
References in periodicals archive ?
BMPRIB and BMPRII mRNA expression levels in goat ovarian follicles and the in vitro effects of BMP-15 on preantral follicle development.
BMP-15 es expresado principalmente en el ovocito y reconocido por receptores BMPRIB (ALK6) en las celulas de la teca y del cumulus [11, 13, 16].
Three of these Fec genes identified in sheep are bone morphogenetic protein receptor type IB (BMPRIB) or Activin Like Kinase 6, known as FecB located on chromosome 6;[3,4,5] growth differentiation factor (GDF9), known as FecG located on chromosome 5 [6,7] and bone morphogenetic protein 15 (BMP15), known as FecX located on the X chromosome the full lenght.[8,6] It is a member of the transforming growth factor beta superfamily (TGFP) which in rodents,[9,6] cattle,[10] goat [11] and sheep is expressed in the oocyte.
The main BMP receptors include the type II BMP receptor (BMPRII) and the following type I receptors: the BMPRI group (BMPRIa and BMPRIb; also denoted as ALK-3 and ALK-6, resp.), the ALK-1 group (ALK-1 and ALK-2), and the TbR-I group (ALK4/ActR-IB, ALK-5/TbR-I, and ALK-7).
The disulfide-linked mature dimer of BMPs will associate with membrane receptors that have been identified as type I receptors--BMPRIA (or activin receptor-like kinase 3--ALK3) and BMPRIB (or ALK6), and type II receptor--BMPRII (Yamashita et al.
Studies of BMPRIB and BMP15 as candidate genes for fecundity in little tailed han sheep.
Recent studies demonstrated that interaction of BMPRIB and BMPRII elicits BMP15 biological activity (Moore et al., 2003), and ALK-5 and BMPRII are essential for GDF-9 signaling in granulosa cells (Vitt et al., 2002a).
Moreover, there have been few reports on the influence of expression of BMPRII, BMPRIB and ALK5 by daidzein in ovine granulosa cells.
Genes for BMPRII, BMPRIB, ALK-5 and GAPDH were quantified by real-time PCR with an iCycler iQ (Bio-Rad, Inc., Hercules, CA, USA) using a commercial kit (TaKaRa).
To determine whether daidzein regulated expression of BMPRII, BMPRIB and ALK-5 transcriptionally, granulosa cells were treated with 1-100 ng/ml of daidzein for 48 h.
GDF-9 and BMP-15 have been shown to signal through known TGF-[beta] superfamily receptors, such as BMPRII, BMPRIB, and ALK-5, to activate the SMAD intracellular cascade for transmitting their mitogenic actions in granulosa cells.
In this study, we cloned a partial chicken BMPRIB gene, which corresponded to the ovine BMPR-IB exon 6 to exon 7 fragment including the Q249R mutation nucleotide, identified and investigated two single nucleotide polymorphisms (SNPs) in five chicken breeds (lines) and analyzed their associations with egg production traits in a synthetic broiler line.