Chromosomal localization of three human genes encoding bone morphogenetic protein receptors

  title={Chromosomal localization of three human genes encoding bone morphogenetic protein receptors},
  author={Anna-Karin {\AA}str{\"o}m and Donald F. Jin and Takeshi Imamura and Eva R{\"o}ijer and Bradley Rosenzweig and Kohei Miyazono and Peter ten Dijke and G{\"o}ran Stenman},
  journal={Mammalian Genome},
Abstract. Bone morphogenetic proteins (BMPs) are members of the TGF-β superfamily that play a pivotal role in bone formation during embryogenesis and fracture repair. BMP signaling occurs via hetero-oligomeric serine/threonine kinase complexes of BMP type I (BMPR-IA or BMPR-IB) and type II receptors (BMPR-II). BMPR-IA and IB are closely related receptors, with sequence differences conserved between different species, suggesting that they serve distinct functions. Here we report the cDNA cloning… 

Molecular Characterization and Expression of Porcine Bone Morphogenetic Protein Receptor-IB in the Uterus of Cyclic and Pregnant Gilts1

Findings show that BMPR-IB mRNA expression is regulated differently in cyclic and pregnant gilts; this pattern of gene expression may be important for endometrial function during the luteal phase of the estrous cycle as compared with early pregnancy.

Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity.

In vivo support is provided for the concept of combinatorial BMP signaling, in which distinct outcomes result both from a single receptor being triggered by different ligands and from asingle ligand binding to different receptors.

Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.

A discrete function for the cytoplasmic domain of BMPR-II is demonstrated and this work justifies further investigation of whether the interaction with and phosphorylation of Tctex-1 contributes to the pathogenesis of PPH.

The Booroola (FecB) phenotype is associated with a mutation in the bone morphogenetic receptor type 1 B (BMPR1B) gene.

A mutation in the subdomain 3 of the kinase domain could result in an alteration in the expression and/or phosphorylation of SMADs, resulting in the phenotype characteristic of the Booroola animals which is the 'precocious' development of a large number of small antral follicles resulting in increased ovulation rate.

Association of Bone Morphogenic Protein Receptor IA (BMPIA) Gene Polymorphism with Ossification of Posterior Longitudinal Ligament (OPLL) of the Cervical Spine in a Chinese Han Population

It is suggested that rs34755052(C/T) was associated with the occurrence of OPLL, but notassociated with the severity of OPll, as well as two single nucleotide polymorphisms (rs3475 5052, rs11528010) and the existence of OP LL in BMPRIA genes.

Bone morphogenetic proteins and their co-receptor, repulsive guidance molecules, signalling pathways in human cancers

It is suggested that RGMs are important partners to fine-tune responses of cells to BMPs stimuli, particularly during the progression and dissemination of cancer cells, and are potential targets for developing a novel cancer therapy.

Multiplicity of BMP Signaling in Skeletal Development

The current status of BMP signaling in skeletal development is reviewed, with focus on regulation at the level of the receptors, and Crosstalk of the BMP pathway with other major signaling pathways is summarized.

Human pluripotent embryonal carcinoma NTERA2 cl.D1 cells maintain their typical morphology in an angiomyogenic medium

The results suggest that despite the NT2/D1 cells natural tendency to differentiate into neuroectodermal lineages, they can activate genes of mesodermal linesages, and it is believed that these pluripotent cells might still be a good model to study biological development of mesoderm derivatives, provided the right culture conditions are met.

[Progress in exploring genes for high fertility in ewes].

The source, location, phenotype, and mechanism of the major genes in all breeds of sheep, including BMPR-IB, BMP-15, and GDF-9 are summarized.

A novel locus for parietal foramina maps to chromosome 4q21-q23

It is concluded that the PFM in the family is a new PFM locus located to 4q21-q25 and although three genes, BMPR1B, PP1 and IBSP, are related to bone morphogenesis, no mutations were identified by sequencing analysis of their exons.



Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.

Cloning and characterization of a human type II receptor for bone morphogenetic proteins.

The cDNA cloning and characterization of a human type II receptor for BMPs (BMPR-II) is reported, which is distantly related to DAF-4, a BMP type II receptors from Caenorhabditis elegans.

Distinct spatial and temporal expression patterns of two type I receptors for bone morphogenetic proteins during mouse embryogenesis.

The complementary DNA cloning of the mouse homolog of ALK-3 is reported, which is highly conserved between mouse and man, and the expression in sites of developing cartilage and bone supports the idea that ALK3 and -6 are receptors for BMPs in vivo.

Genomic organization and chromosomal location of the mouse type I BMP-2/4 receptor.

The structure of a mouse bone morphogenetic protein (BMP) type I receptor gene that can bind both B MP-2 and BMP-4 is characterized and knowledge of the genomic structure of Bmpr provides important information to create BmPR-deficient mice.

Bmpr encodes a type I bone morphogenetic protein receptor that is essential for gastrulation during mouse embryogenesis.

Results suggest that signaling through this type I BMP-2/4 receptor is not necessary for preimplantation or for initial postIMplantation development but may be essential for the inductive events that lead to the formation of mesoderm during gastrulation and later for the differentiation of a subset of mesodermal cell types.

Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization.

A cosmid clone containing the complete human bone morphogenetic protein-4 gene (BMP4) was isolated and used as a probe to determine the precise chromosomal localization of the human BMP4 gene.

Enhanced expression of type I receptors for bone morphogenetic proteins during bone formation

  • Y. IshidouI. Kitajima T. Sakou
  • Biology, Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 1995
The present data suggest that expression of BMP type I receptors is up‐regulated during bone formation, and that they may play important roles in bone morphogenesis.

Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome.

The results indicated that BMP1 is not responsible for Langer-Giedion syndrome, whose putative gene has been assigned to 8q24.

Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4.

Results suggest thatALK-3 and ALK-6 are type I receptors for OP-1 and BMP-4; in addition, ALk-2 is a type I receptor shared by activin and OP- 1, but not by B MP-4.

Bone morphogenetic protein receptors and activin receptors are highly expressed in ossified ligament tissues of patients with ossification of the posterior longitudinal ligament.

The high expression of BMPRs and ActRs in the ectopic ossified ligament suggests that BMPs and activin may be tightly involved in the pathological ossification process of OPLL.