Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
Abstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribe...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-10-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00295-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832594884602626048 |
|---|---|
| author | Sílvia Pires Paula Jorge Thomas Liehr Natália Oliva-Teles |
| author_facet | Sílvia Pires Paula Jorge Thomas Liehr Natália Oliva-Teles |
| author_sort | Sílvia Pires |
| collection | DOAJ |
| description | Abstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribed into proteins and lack obvious phenotypic impact. Nonetheless, their clinical importance is increasingly under scrutiny, with several studies aiming to assess their influence on human diseases and susceptibilities, especially as they are seemingly part of the long noncoding RNAs in certain tissues. This article summarizes the classification methods of human heterochromatic CHs documented in the literature over the last two decades. Multiple scoring systems have been identified, and previous approaches for CH assessment and reporting in genetic diagnosis have shown inconsistencies. Owing to the current heterogeneity in the classification of CHs, data analysis may be biased, impacting the quality of clinical reports and human genetic research. This review highlights the need for a universal scoring system, which is essential for scientific reproducibility and the accurate identification and clinical evaluation of human CHs. |
| format | Article |
| id | doaj-art-1b6cd479731042bc8e3f809ef43c7f81 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-1b6cd479731042bc8e3f809ef43c7f812025-01-19T12:15:53ZengNature Publishing GroupHuman Genome Variation2054-345X2024-10-011111610.1038/s41439-024-00295-8Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring systemSílvia Pires0Paula Jorge1Thomas Liehr2Natália Oliva-Teles3Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo AntónioUnit for Multidisciplinary Research in Biomedicine, Institute of Biomedical Sciences Abel Salazar, University of PortoJena University Hospital, Friedrich Schiller University, Institute of Human GeneticsCentro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo AntónioAbstract Chromosomal heteromorphisms (CHs) are morphological variations predominantly found in constitutive heterochromatic regions of the genome, primarily composed of tandemly repetitive sequences of satellite DNA. Although not completely devoid of genes, these regions are typically not transcribed into proteins and lack obvious phenotypic impact. Nonetheless, their clinical importance is increasingly under scrutiny, with several studies aiming to assess their influence on human diseases and susceptibilities, especially as they are seemingly part of the long noncoding RNAs in certain tissues. This article summarizes the classification methods of human heterochromatic CHs documented in the literature over the last two decades. Multiple scoring systems have been identified, and previous approaches for CH assessment and reporting in genetic diagnosis have shown inconsistencies. Owing to the current heterogeneity in the classification of CHs, data analysis may be biased, impacting the quality of clinical reports and human genetic research. This review highlights the need for a universal scoring system, which is essential for scientific reproducibility and the accurate identification and clinical evaluation of human CHs.https://doi.org/10.1038/s41439-024-00295-8 |
| spellingShingle | Sílvia Pires Paula Jorge Thomas Liehr Natália Oliva-Teles Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system Human Genome Variation |
| title | Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system |
| title_full | Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system |
| title_fullStr | Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system |
| title_full_unstemmed | Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system |
| title_short | Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system |
| title_sort | challenges in classifying human chromosomal heteromorphisms using banding cytogenetics from controversial guidelines to the need for a universal scoring system |
| url | https://doi.org/10.1038/s41439-024-00295-8 |
| work_keys_str_mv | AT silviapires challengesinclassifyinghumanchromosomalheteromorphismsusingbandingcytogeneticsfromcontroversialguidelinestotheneedforauniversalscoringsystem AT paulajorge challengesinclassifyinghumanchromosomalheteromorphismsusingbandingcytogeneticsfromcontroversialguidelinestotheneedforauniversalscoringsystem AT thomasliehr challengesinclassifyinghumanchromosomalheteromorphismsusingbandingcytogeneticsfromcontroversialguidelinestotheneedforauniversalscoringsystem AT nataliaolivateles challengesinclassifyinghumanchromosomalheteromorphismsusingbandingcytogeneticsfromcontroversialguidelinestotheneedforauniversalscoringsystem |