Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

Wang, Jianda; Hou, Yanqi; Liu, Qi; Zhai, Shuying; Zheng, Liangwu; Lin, Han; Guo, Yufan; Zhang, Bijun; Miao, Pu; Lou, Yue; Xu, Xiaojun; Wang, Ye; Ren, Yanqi; Cao, Zhenhua; Feng, Jianhua

doi:10.1007/s10048-020-00608-3

Cited by 7 publications

(11 citation statements)

References 29 publications

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“…For example, CCL19 on chromosome 8 promotes ligament ossification [ 49 ]. A lack of UBAP1 leads to neurological disorders via the ESCRT pathway, such as hereditary spastic paraplegia [ 50 , 51 ]. Additionally, FGF9 and SGCG , located on chromosome 12, are noteworthy candidates.…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats

Sun

Fang

et al. 2022

Animals

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Identifying associations between genetic markers and economic traits has practical benefits for the meat goat industry. To better understand the genomic regions and biological pathways contributing to body conformation traits of meat goats, a genome-wide association study was performed using Dazu black goats (DBGs), a Chinese indigenous goat breed. In particular, 150 DBGs were genotyped by whole-genome sequencing, and six body conformation traits, including body height (BH), body length (BL), cannon circumference (CC), chest depth (CD), chest width (CW), and heart girth (HG), were examined. In total, 53 potential SNPs were associated with these body conformation traits. A bioinformatics analysis was performed to evaluate the genes located close to the significant SNPs. Finally, 42 candidate genes (e.g., PSTPIP2, C7orf57, CCL19, FGF9, SGCG, FIGN, and SIPA1L) were identified as components of the genetic architecture underlying body conformation traits. Our results provide useful biological information for the improvement of growth performance and have practical applications for genomic selection in goats.

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Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats

Sun

Fang

et al. 2022

Animals

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“…been reported in multiple studies [8][9][10][11]. Interestingly, all of these mutations cause UBAP1 to form truncated proteins.…”

Section: Plos Onementioning

confidence: 90%

“…Most recently, mutations in UBAP1 were identified to be responsible for a subset of HSP [ 2 ]. In less than two years, the pathogenicities of UBAP1 mutations in HSP have been reported in multiple studies [ 8 – 11 ]. Interestingly, all of these mutations cause UBAP1 to form truncated proteins.…”

Section: Discussionmentioning

confidence: 99%

“…These results suggested that the novel mutations may have disrupted UBAP1 function. At present, there have been seventeen causal mutations in UBAP1 responsible for HSP, among which, 16 mutations are located in the fourth exon [2,[8][9][10][11]. However, this pattern does not indicate that exon 4 is a hot spot for mutations, since this exon occupies most of the coding region of UBAP1.…”

Section: Confirmation Of Two Novel Variants In Ubap1mentioning

confidence: 99%

“…It encodes UBAP1, a 502-amino-acid-residue peptide. To date, there have been 15 pathogenic variants in UBAP1 responsible for spastic paraplegia in five separate reports [2,[8][9][10][11][12]. UBAP1, together with TSG101, VPS28, and VPS37A, comprise the mammalian endosomal-sorting complex required for transport I (ESCRT-I) [13].…”

Section: Introductionmentioning

confidence: 99%

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Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia

et al. 2021

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Hereditary spastic paraplegias (HSPs) are a group of rare neurodegenerative disorders. HSPs are complex disorders and are clinically and genetically heterogeneous. To date, more than 80 genes or genetic loci have been reported to be responsible for HSPs in a Mendelian-dependent manner. Most recently, ubiquitin-associated protein 1 (UBAP1) has been recognized to be involved in HSP. Here, we identified novel protein truncating variants in two families with pure form of HSP. A novel deletion (c.468_469delTG) in the UBAP1 gene was found in the first family, whereas a nonsense variant (c.512T>G) was ascertained in the second family. The variants were confirmed in all patients but were not detected in unaffected family members. The mutations resulted in truncated proteins of UBAP1. The variants did not result in different subcellular localizations in neuro-2a cells. However, each of the two variants impaired neurite outgrowth. Taken together, our findings expand the pathogenic spectrum of UBAP1 variants in HSP.

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A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Wei

Wang

Dong

et al. 2022

Molec Gen & Gen Med

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Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

Cited by 7 publications

References 29 publications

Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats

Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats

Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia

A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

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