دورية أكاديمية
أعرض في EDS

Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.

التفاصيل البيبلوغرافية
العنوان: Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.
المؤلفون: Almeida VT; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil. atvvanessa@gmail.com., Chehimi SN; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Carvalho GFS; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Gasparini Y; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Nascimento AM; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Vieira LL; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Wolff BM; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Montenegro MM; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil., Kulikowski LD; Laboratorio de Citogenomica, Departamento de Patologia, Faculdade de Medicina, Universidade de Sao Paulo, PAMB, 2º Floor, Block 12, Room 07, Dr. Eneas de Carvalho Aguiar Avenue, 155, Cerqueira Cesar, Sao Paulo, 05403-000, Brazil.
المصدر: BMC research notes [BMC Res Notes] 2024 Apr 29; Vol. 17 (1), pp. 121. Date of Electronic Publication: 2024 Apr 29.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Biomed Central Country of Publication: England NLM ID: 101462768 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-0500 (Electronic) Linking ISSN: 17560500 NLM ISO Abbreviation: BMC Res Notes Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Biomed Central, 2008.
مواضيع طبية MeSH: DNA Methylation*/genetics , Phenotype* , Cri-du-Chat Syndrome*/genetics, Humans ; Female ; Male ; Chromosomes, Human, Pair 5/genetics ; Child, Preschool ; Infant ; Child
مستخلص: Cri Du Chat syndrome, or 5p- syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable clinical manifestations, including high-pitched cry in newborns, delayed growth, and global development. Different cytogenomic rearrangements, family history, and environmental factors may hinder the genotype-phenotype association. Thus, the phenotypic variability of this syndrome may not be limited only to variations in gene structure, such as deletions and duplications. It is possible that other mechanisms related to the activation or inactivation of promoters and/or exons of actively transcribed genes, such as DNA methylation are involved. Therefore, we studied the genome-wide methylation status profile of peripheral blood samples from fifteen patients with Cri du Chat Syndrome and nine control samples through the array method to look for Differentially Methylated Regions. We found that Differentially Methylated Regions outside the 5p region are mainly associated with regulating gene transcription, splicing, and chromatin remodeling. Most biological pathways are related to transcription, histone and chromatin binding, spliceosome and ribosomal complex, and RNA processing. Our results suggest that changes in the 5p region can cause an imbalance in other chromosomal regions capable of affecting gene modulation and thus explain the phenotypic differences in patients with 5p-.
(© 2024. The Author(s).)
References: Eur J Med Genet. 2014 Mar;57(4):145-50. (PMID: 24556499)
Open Biol. 2020 Sep;10(9):200195. (PMID: 32961075)
Nature. 2004 Sep 16;431(7006):268-74. (PMID: 15372022)
F1000Res. 2016 Jun 08;5:1281. (PMID: 27347385)
Genome Biol. 2013;14(10):R115. (PMID: 24138928)
PLoS One. 2021 Mar 2;16(3):e0247801. (PMID: 33651839)
Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. (PMID: 16473053)
Hum Genet. 1978 Nov 16;44(3):227-75. (PMID: 365706)
Clin Epigenetics. 2022 Oct 14;14(1):128. (PMID: 36242045)
Genome Biol. 2016 Oct 7;17(1):208. (PMID: 27717381)
Mol Biosyst. 2008 Nov;4(11):1046-57. (PMID: 18931780)
Nat Methods. 2015 Feb;12(2):115-21. (PMID: 25633503)
معلومات مُعتمدة: 88887.468214/2019-00 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
فهرسة مساهمة: Keywords: Cri du chat syndrome; DNA methylation; Rare diseases
تواريخ الأحداث: Date Created: 20240428 Date Completed: 20240428 Latest Revision: 20240501
رمز التحديث: 20240501
مُعرف محوري في PubMed: PMC11057176
DOI: 10.1186/s13104-024-06734-7
PMID: 38679724
قاعدة البيانات: MEDLINE
الوصف
تدمد:1756-0500
DOI:10.1186/s13104-024-06734-7