A conserved noncoding intronic transcript at the mouse Dnm3 locus

Loebel, David A.F.; Tsoi, Bonny; Wong, Nicole; Tam, Patrick

doi:10.1016/j.ygeno.2005.02.001

Cited by 69 publications

(74 citation statements)

References 27 publications

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“…On the other hand, Western blotting showed that Dnm3 protein was strongly expressed in the brain and testis in adult mice, while the level of expression in the adult liver was much lower, as previously reported (Fig. 8B) (Loebel et al, 2005). The levels of Dnm3 mRNA expression in embryos at E15.5 or younger were at low levels, similar to its expression level in the adult liver (data not shown).…”

Section: Dnm3ossupporting

confidence: 87%

“…A series of whole mount in situ hybridization (WISH) showed that authentic Dnm3os expression was weakly detected in head and pharyngeal regions in E9.0 mouse embryos, and then became clear in pharyngeal arch and limb buds in E9.5 mouse embryos (Fig. 2C) as previously reported (Loebel et al, 2005). Homogenous ␤-gal activity was observed in the pharyngeal arches, except in the endoderm and outermost layer.…”

Section: Knock-in Micesupporting

confidence: 84%

“…During embryonic development, Dnm3 mRNA was barely detectable by PCR at E11.5. On the other hand, Dnm3os mRNA expression was most intense in pharyngeal arches and limb buds from E10.5 through E11.5 and gradually decreased thereafter during embryonic development (Loebel et al, 2005). The determination of the quantity by real-time PCR showed that Dnm3 mRNA was expressed in the homozygous embryos at a level comparable to that of their wild-type littermates Alcian blue (cartilage) and alizarin red (bone) staining of the whole skeleton.…”

Section: Dnm3os Lacz/lacz Micementioning

confidence: 93%

“…Dnm3 is expressed in a variety of tissues including the testis, brain, heart, and lungs (Cao et al, 1998). It could be speculated that Dnm3os might function as an antisense ncRNA for Dnm3, since Dnm3os is transcribed with an antisense orientation to Dnm3 from the locus located in a 100-kb intron of Dnm3 (Loebel et al, 2005). However, both the protein and mRNA expression levels of Dnm3 in Dnm3os-null mutations were comparable to those in their wild-type littermates as far as they were examined.…”

Section: Expression Of Dnm3 Is Not Dependent On Dnm3osmentioning

confidence: 99%

“…Dmn3os is a 7.9-kb antisense transcript, located within the 14th intron of the mouse dynamin-3(Dnm3) gene (Loebel et al, 2005). Although the mouse Dmn3os gene (GenBank: AB159607) has a potential open reading frame, a comparison of the sequences found in several higher vertebrates revealed that the predicted start site ATG of the mouse Dmn3os gene was not conserved in the human or chicken sequences despite the overall sequence conservation especially in the region of the 5Ј end of the transcript.…”

Section: Introductionmentioning

confidence: 99%

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Dnm3os, a non‐coding RNA, is required for normal growth and skeletal development in mice

Watanabe

Sato

Amano

et al. 2008

Developmental Dynamics

136

140

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Dnm3os, a gene that is transcribed into a non-coding RNA (ncRNA), contains three micro RNAs (miRNAs), miR-199a, miR-199a*, and miR-214, whose functions remain unknown in mammals. In this study, we introduced the lacZ gene into the Dnm3os locus to recapitulate its expression pattern and disrupt its function. Dnm3os ؉/lacZ heterozygous embryos showed ␤-galactosidase activity, which reflected the authentic expression pattern of Dnm3os RNA. Most of the Dnm3os lacZ/lacZ homozygous pups died within one month of birth. After birth, Dnm3os lacZ/lacZ mice exhibited several skeletal abnormalities, including craniofacial hypoplasia, defects in dorsal neural arches and spinous processes of the vertebrae, and osteopenia. Importantly, the expression of miR-199a, miR-199a*, and miR-214 was significantly downregulated in Dnm3os lacZ/lacZ embryos, supporting the assumption that Dnm3os serves as a precursor of these three miRNAs. Thus, Dnm3os has emerged as an miRNA-encoding gene that is indispensable for normal skeletal development and body growth in mammals.

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Section: Dnm3ossupporting

confidence: 87%

Section: Knock-in Micesupporting

confidence: 84%

Section: Dnm3os Lacz/lacz Micementioning

confidence: 93%

Section: Expression Of Dnm3 Is Not Dependent On Dnm3osmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Dnm3os, a non‐coding RNA, is required for normal growth and skeletal development in mice

Watanabe

Sato

Amano

et al. 2008

Developmental Dynamics

136

140

View full text Add to dashboard Cite

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Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

Burkardt

Rosenfeld

Helgeson

et al. 2011

American J of Med Genetics Pt A

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Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170135865–172099327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome.

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Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Chatron

Haddad

Andrieux

et al. 2015

American J of Med Genetics Pt A

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Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual disability (100%), intrauterine (92%) and postnatal (94%) growth retardation, microcephaly (77%), short hands and feet (83%), brachydactyly (70%), fifth finger clinodactyly (78%) and facial dysmorphism with a bulbous nose (72%), abnormal ears (67%) and micrognathia (56%). Other findings were abnormal palate (50%), single transverse palmar crease (53%), renal (38%), cardiac (38%), and genital (23%) malformations. The deletions were characterized by chromosome microarray. They were of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1:164,501,003-167,022,133), associated with cardiac and renal anomalies, a distal one (chr1:178,514,910-181,269,712) and an intermediate 490 kb region (chr1:171970575-172460683, hg19), deleted in the most of the patients, and containing DNM3, MIR3120 and MIR214 that may play an important role in the phenotype. However, this genetic region seems complex with multiple regions giving rise to the same phenotype.

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A conserved noncoding intronic transcript at the mouse Dnm3 locus

Cited by 69 publications

References 27 publications

Dnm3os, a non‐coding RNA, is required for normal growth and skeletal development in mice

Dnm3os, a non‐coding RNA, is required for normal growth and skeletal development in mice

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

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