Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bone morphogenetic protein 7

The BMP7 gene encodes a protein involved in TGP-beta signaling which regulates bone formation. A contribution of mutations to urogenital malformations is also discussed.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
SALL4
Aplasia of lacrimal and salivary glands
FGF10
Autosomal dominant Robinow syndrome 1
WNT5A
Autosomal recessive Robinow syndrome
ROR2
BMP7
BNAR syndrome
FREM1
Brain malformations with urinary tract defects
NFIA
Branchio-oculo-facial syndrome
TFAP2A
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
CHARGE syndrome
CHD7
TBX18
CHD1L
Congenital anomalies of kidney and urinary tract 1
DSTYK
Congenital anomalies of kidney and urinary tract 2
TBX18
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
WT1
Goldberg-Shprintzen syndrome
KIF1BP
IVIC syndrome
SALL4
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Lacrimoauriculodentodigital syndrome
FGF10
Mowat-Wilson syndrome
ZEB2
Papillorenal syndrome
PAX2
Renal cysts and diabetes (RCAD)
HNF1B
Renal dysplasia with hypopituitarism and diabetes
HNF1A
Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
ACE
AGT
AGTR1
REN
Renal-hepatic-pancreatic dysplasia
NPHP3
SERKAL syndrome
WNT4
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Smith-Lemli-Opitz syndrome
DHCR7
Somatic nephroblastoma
GPC3
WT1
Susceptibility to cystic renal dysplasia
BICC1
Syndromic microphthalmia 6
BMP4
Urofacial syndrome
HPSE2
Vesicoureteral reflux
Familial vesicoureteral reflux 2
ROBO2
Familial vesicoureteral reflux 3
SOX17
Familial vesicoureteral reflux 8
TNXB
WAGR syndrome
PAX6
WT1

References:

1.

Cheng H et. al. (2003) Osteogenic activity of the fourteen types of human bone morphogenetic proteins (BMPs).

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2.

Fuller ML et. al. (2007) Bone morphogenetic proteins promote gliosis in demyelinating spinal cord lesions.

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3.

Hahn GV et. al. (1992) A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7.

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4.

Celeste AJ et. al. (1990) Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone.

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5.

Ozkaynak E et. al. (1990) OP-1 cDNA encodes an osteogenic protein in the TGF-beta family.

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6.

Marker PC et. al. (1995) Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2.

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7.

Dudley AT et. al. (1995) A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye.

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8.

Solursh M et. al. (1996) Osteogenic protein-1 is required for mammalian eye development.

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9.

Jena N et. al. (1997) BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye.

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10.

Augsburger A et. al. (1999) BMPs as mediators of roof plate repulsion of commissural neurons.

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11.

Beck HN et. al. (2001) Bone morphogenetic protein-5 (BMP-5) promotes dendritic growth in cultured sympathetic neurons.

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12.

You L et. al. (2002) Differential effect of activin A and BMP-7 on myofibroblast differentiation and the role of the Smad signaling pathway.

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13.

Groppe J et. al. (2002) Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.

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14.

Butler SJ et. al. (2003) A role for BMP heterodimers in roof plate-mediated repulsion of commissural axons.

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15.

Wang S et. al. (2004) Bone morphogenetic protein-7 signals opposing transforming growth factor beta in mesangial cells.

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16.

Zeisberg EM et. al. (2007) Endothelial-to-mesenchymal transition contributes to cardiac fibrosis.

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17.

Suzuki K et. al. (2008) Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.

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18.

Adams D et. al. (2007) Control of kidney, eye and limb expression of Bmp7 by an enhancer element highly conserved between species.

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19.

Tseng YH et. al. (2008) New role of bone morphogenetic protein 7 in brown adipogenesis and energy expenditure.

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20.

Kazama I et. al. (2008) Podocyte-derived BMP7 is critical for nephron development.

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21.

Long J et. al. (2013) MicroRNA-22 is a master regulator of bone morphogenetic protein-7/6 homeostasis in the kidney.

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Update: Sept. 26, 2018