Deoxyribonuclease X (DNASEX)

DNASE1L1; DNAS1L1; XIB; DNase-X; DNL1L; Deoxyribonuclease I-Like 1; Muscle-specific DNase I-like

SPN	R957
HGNC	2957
MGI	109628
PubMed	8541839
RGD	1359588
UniProt	P49184
Wiki	DNASE1L1

The transcript was present at highest levels in skeletal and cardiac muscle, with lower expression in other tissues. Mutation analysis was performed using DNA samples from 2 unrelated patients with Barth syndrome and from 11 unrelated patients with Emery-Dreifuss muscular dystrophy. No disease-associated mutations were detected in the coding region of the gene; however, Parrish et al. found a novel 190-bp insertion/deletion polymorphism in the 3-prime untranslated region. Translation of the long open reading frame found in the cDNA yielded a putative 302-amino acid protein with 37.6% identity to human DNase I.DNASE1L1 was predicted to contain a signal sequence at the amino terminus, a transmembrane domain near the carboxyl terminus, and a helix-loop-helix domain.

Reference

"Isolation, differential splicing and protein expression of a DNase on the human X chromosome."
Cell Death Differ. 3:199-206(1996) [PubMed] [Europe PMC] [Abstract]

"A muscle-specific DNase I-like gene in human Xq28."
Hum. Mol. Genet. 4:1557-1564(1995) [PubMed] [Europe PMC] [Abstract]

"Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci."
Hum. Mol. Genet. 5:659-668(1996) [PubMed] [Europe PMC] [Abstract]

"Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region."
Gene 168:267-270(1996) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Physical and biochemical properties of mammalian DNase X proteins: non-AUG translation initiation of porcine and bovine mRNAs for DNase X."
Biochem. J. 392:511-517(2005) [PubMed] [Europe PMC] [Abstract]