Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

Kameli, Reyhaneh; Ashrafi, Mahmoud Reza; Ehya, Farveh; Alizadeh, Hussain; Hosseinpour, Sareh; Garshasbi, Masoud; Tavasoli, Ali Reza

doi:10.1016/j.ejmg.2019.02.002

Cited by 6 publications

(2 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Previous research has shown that RIN2 syndrome in humans is also called MACS (macrocephaly, alopecia, cutis laxa, and scoliosis) syndrome, a rare hereditary skin disease caused by the loss of the 1-bp homozygote of RIN2 ( Syx et al, 2010 ; Kameli et al, 2020 ). A genome-wide selective scan of purebred horses showed that RIN2 played similar roles in signal transmission, indicating that RIN2 is under strong artificial selection in racing horses ( Moon et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

Novel 61-bp Indel of RIN2 Is Associated With Fat and Hatching Weight Traits in Chickens

Lin¹,

Ren²,

Li³

et al. 2021

Front. Genet.

View full text Add to dashboard Cite

The Ras and Rab interactor 2 (RIN2) gene, which encodes RAS and Rab interacting protein 2, can interact with GTP-bound Rab5 and participate in early endocytosis. This study found a 61-bp insertion/deletion (indel) in the RIN2 intron region, and 3 genotypes II, ID, and DD were observed. Genotype analysis of mutation sites was performed on 665 individuals from F2 population and 8 chicken breeds. It was found that the indel existed in each breed and that yellow feathered chickens were mainly of the DD genotype. Correlation analysis of growth and carcass traits in the F2 population of Xinghua and White Recessive Rock chickens showed that the 61-bp indel was significantly correlated with abdominal fat weight, abdominal fat rate, fat width, and hatching weight (P < 0.05). RIN2 mRNA was expressed in all the tested tissues, and its expression in abdominal fat was higher than that in other tissues. In addition, the expression of the RIN2 mRNA in the abdominal fat of the DD genotype was significantly higher than that of the II genotype (P < 0.05). The transcriptional activity results showed that the luciferase activity of the pGL3-DD vector was significantly higher than that of the pGL3-II vector (P < 0.01). Moreover, the results indicate that the polymorphisms in transcription factor binding sites (TFBSs) of 61-bp indel may affect the transcriptional activity of RIN2, and thus alter fat traits in chicken. The results of this study showed that the 61-bp indel was closely related to abdominal fat-related and hatching weight traits of chickens, which may have reference value for molecular marker-assisted selection of chickens.

show abstract

Section: Introductionmentioning

confidence: 99%

Novel 61-bp Indel of RIN2 Is Associated With Fat and Hatching Weight Traits in Chickens

Lin¹,

Ren²,

Li³

et al. 2021

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…Previous research has shown that RIN2 syndrome in humans is also called MACS (macrocephaly, alopecia, cutis laxa and scoliosis) syndrome that is a rare hereditary skin disease caused by the loss of the 1-bp homozygote of RIN2 [3,4]. A genome-wide selective scan of purebred horses showed that RIN2 plays similar roles in signal transmission, indicating that the RIN2 gene is under strong artificial selection in horse racing [5].…”

Section: Introductionmentioning

confidence: 99%

Novel 61-BP Indel of the RIN2 Gene is Significantly Associated with Chicken Growth and Carcass Traits

Lin¹,

Ren²,

Liang³

et al. 2020

Preprint

View full text Add to dashboard Cite

Background: Ras and Rab interactor 2 (RIN2) gene, encoding RAS and Rab interacting protein 2, can interact with GTP-bound Rab5 and participate in early endocytosis. Deletion of RIN2 may impair Rab5-related endosome signaling, leading to abnormal phenotypes. However, no research has been reported on the functions of RIN2 related to animal production.Results: A 61-bp insertion/deletion (indel) in the RIN2 intron region in this study. The genotype analysis of mutation sites was performed on 550 individuals from 7 different chicken breeds, and it was found that the indel exists in each breed and the local breed chickens are mainly DD genotypes. Correlation analysis of the indel with growth traits and carcass traits of the F2 population of Xinghua and White Recessive Rock chicken showed that the RIN2 61-bp deletion mutation site was significantly correlated with abdominal fat weight, fat width and hatching weight traits (P < 0.05). RIN2 mRNA was expressed in all test tissues, and the expression level of abdominal fat was higher than that in other tissues. In addition, it was further found that the expression level of type II RIN2 mRNA in abdominal fat was significantly different from that of ID type and DD type (P < 0.05). Conclusion: The results showed that the mutation was closely related to the abdominal fat-related and hatching weight traits of chickens, which may have certain reference value for molecular marker-assisted selection of chickens.

show abstract

Malformations of Cortical Development

Geraldo

Rossi

Severino³

2021

Pediatric Neuroradiology

View full text Add to dashboard Cite

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum

Cited by 6 publications

References 11 publications

Novel 61-bp Indel of RIN2 Is Associated With Fat and Hatching Weight Traits in Chickens

Novel 61-bp Indel of RIN2 Is Associated With Fat and Hatching Weight Traits in Chickens

Novel 61-BP Indel of the RIN2 Gene is Significantly Associated with Chicken Growth and Carcass Traits

Malformations of Cortical Development

Contact Info

Product

Resources

About