拷贝数变异图谱的构建鉴定了非典型女性生殖器发育的小重叠区域和候选基因

IF 1.1 Q4 OBSTETRICS & GYNECOLOGY Reproductive medicine (Basel, Switzerland) Pub Date : 2022-06-14 DOI:10.3390/reprodmed3020014
Ashley U. Amukamara, I. Amarillo
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引用次数: 1

摘要

拷贝数变异(CNVs)涉及到性发育差异(DSD)的各种条件。一般来说,较大的基因组畸变更常被认为是致病的或与临床相关的,但随着时间的推移,较小的CNVs与各种形式的DSD有关。本研究的主要目的是鉴定非典型女性生殖器(AFG)患者的小CNV和最小重叠区(sro),并建立AFG的CNV图谱。我们查询了破译数据库,在AFG个体的基因组中检测到反复重复和/或缺失。根据这些数据,我们构建了一个由sro组成的染色体图谱,并研究了这些区域可能与非典型女性生殖器发育相关的基因。我们在22条染色体中鉴定出180个独特的sro (7.95 kb ~ 45.34 Mb)。在X、17、11和22号染色体上发现了最多的sro。在3号染色体上没有发现。从这些sro中,我们确定了22个潜在的候选基因。虽然目前没有这些基因与AFG相关,但一篇文献综述表明,几乎一半的基因可能与生殖系统的发育和/或功能有关,只有一个基因与一种疾病有关,该疾病报告了一名患有生殖器模糊的患者。我们关于新型sro的数据需要进一步的功能研究,以确定所鉴定的候选基因在非典型女性生殖器发育中的作用,这篇论文应该作为下游分子研究的催化剂,最终可能影响这些DSD患者的遗传咨询、诊断和管理。
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Construction of Copy Number Variation Map Identifies Small Regions of Overlap and Candidate Genes for Atypical Female Genitalia Development
Copy number variations (CNVs) have been implicated in various conditions of differences of sexual development (DSD). Generally, larger genomic aberrations are more often considered disease-causing or clinically relevant, but over time, smaller CNVs have been associated with various forms of DSD. The main objective of this study is to identify small CNVs and the smallest regions of overlap (SROs) in patients with atypical female genitalia (AFG) and build a CNV map of AFG. We queried the DECIPHER database for recurrent duplications and/or deletions detected across the genome of AFG individuals. From these data, we constructed a chromosome map consisting of SROs and investigated such regions for genes that may be associated with the development of atypical female genitalia. Our study identified 180 unique SROs (7.95 kb to 45.34 Mb) distributed among 22 chromosomes. The most SROs were found in chromosomes X, 17, 11, and 22. None were found in chromosome 3. From these SROs, we identified 22 genes as potential candidates. Although none of these genes are currently associated with AFG, a literature review indicated that almost half were potentially involved in the development and/or function of the reproductive system, and only one gene was associated with a disorder that reported an individual patient with ambiguous genitalia. Our data regarding novel SROs requires further functional investigation to determine the role of the identified candidate genes in the development of atypical female genitalia, and this paper should serve as a catalyst for downstream molecular studies that may eventually affect the genetic counseling, diagnosis, and management of these DSD patients.
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