Literature summary for 5.6.2.4 extracted from

Ng, A.J.; Walia, M.K.; Smeets, M.F.; Mutsaers, A.J.; Sims, N.A.; Purton, L.E.; Walsh, N.C.; Martin, T.J.; Walkley, C.R.
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation (2015), PLoS Genet., 11, e1005160 .

Search for more literature for 5.6.2.4

Protein Variants

Protein Variants	Comment	Organism
additional information	generation of osteoblast-specific Recql4 deficient mice. Acute deletion of Recql4 in primary osteoblasts or shRNA knockdown in an osteoblastic cell line causing failed proliferation, accompanied by cell cycle arrest, induction of apoptosis and impaired differentiation. When cohorts of animals are aged long term, the loss of Recql4 alone is not sufficient to initiate OS. The Recql4fl/fl allele is crossed to a fully penetrant OS model (Osx-Cre p53fl/fl). The Osx-Cre p53fl/flRecql4fl/fl (dKO) animals have a significantly increased OS-free survival compared to Osx-Cre p53fl/fl or Osx-Cre p53fl/flRecql4fl/+ (het) animals. The extended survival is explained when the Recql4 status in the tumors that arose is assessed, and in no case is there complete deletion of Recql4 in the dKO OS. Tumor suppression and osteosarcoma susceptibility are most likely a function of mutant, not null, alleles of RECQL4. Reduced skeletal growth in Osx-Cre Recql4fl/fl mice	Mus musculus

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
nucleus	-	Homo sapiens	5634	-
nucleus	-	Mus musculus	5634	-

Metals/Ions

Metals/Ions	Comment	Organism	Structure
Mg2+	required	Homo sapiens
Mg2+	required	Mus musculus

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + H2O	Homo sapiens	-	ADP + phosphate	-	?
ATP + H2O	Mus musculus	-	ADP + phosphate	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	O94761	-	-
Mus musculus	Q75NR7	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
bone	-	Homo sapiens	-
bone	-	Mus musculus	-
osteoblast	-	Homo sapiens	-
osteoblast	-	Mus musculus	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + H2O	-	Homo sapiens	ADP + phosphate	-	?
ATP + H2O	-	Mus musculus	ADP + phosphate	-	?

Synonyms

Synonyms	Comment	Organism
ATP-dependent DNA helicase Q4	-	Homo sapiens
ATP-dependent DNA helicase Q4	-	Mus musculus
RecQ4	-	Homo sapiens
RecQ4	-	Mus musculus
RECQL4	-	Homo sapiens
RECQL4	-	Mus musculus

General Information

General Information	Comment	Organism
malfunction	gene RECQL4 mutations are associated with Rothmund Thomson syndrome (RTS), RAPADILINO syndrome and Baller-Gerold syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly increased incidence of osteosarcoma (OS). Mechanism for the benign skeletal phenotypes of RECQL4 mutation syndromes, overview	Homo sapiens
malfunction	mechanism for the benign skeletal phenotypes of RECQL4 mutation syndromes, overview. Recql4 deletion in vivo at the osteoblastic progenitor stage of differentiation results in mice with shorter bones and reduced bone volume, assessed at 9 weeks of age. This is associated with an osteoblast intrinsic decrease in mineral apposition rate and bone formation rate in the Recql4-deficient cohorts. Deletion of Recql4 in mature osteoblasts/osteocytes in vivo, does not cause a detectable phenotype. Acute deletion of Recql4 in primary osteoblasts or shRNA knockdown in an osteoblastic cell line cause failed proliferation, accompanied by cell cycle arrest, induction of apoptosis and impaired differentiation. Tumor suppression and osteosarcoma susceptibility are most likely a function of mutant, not null, alleles of RECQL4. Reduced skeletal growth in Osx-Cre Recql4fl/fl mice. The concurrent loss of p53 does not rescue Recql4 deficient osteoblast proliferation	Mus musculus
physiological function	role of RECQL4 in normal adult bone development and homeostasis. Recql4 is required for normal skeletal development and both benign and malignant osteoblast function	Homo sapiens
physiological function	role of RECQL4 in normal adult bone development and homeostasis. Recql4 is required for normal skeletal development and both benign and malignant osteoblast function	Mus musculus

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Release 2023.1 (January 2023)