A Family with Robertsonian Translocation: a Potential Mechanism of Speciation in Humans

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2016 Jun 23

PMID 27330563

Citations 13

Authors

Jieping Song

Xi Li

Lei Sun

Shuqin Xu

Nian Liu

Yanyi Yao

Zhi Liu

Weipeng Wang

Han Rong

Bo Wang

Affiliations

Soon will be listed here.

Abstract

Background: Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneous abortions and risk of producing unbalanced gametes and, therefore unbalanced offspring. Here we reported a previously undescribed Robertsonian translocation.

Case Presentation: We identified three Robertsonian translocation carriers in this family. Two were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10) and their son was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10), der(14;15)(q10;q10) karyotype. Chromosomal analysis of sperm showed 99.7 % of sperm from the homozygous translocation carrier were normal/balanced while only 79.9 % of sperm from the heterozygous translocation carrier were normal/balanced. There was a significantly higher frequency of aneuploidy for sex chromosome in the heterozygous translocation carrier.

Conclusions: The reproductive fitness of Robertsonian translocation carriers is reduced. Robertsonian translocation homozygosity can be a potential speciation in humans with 44 chromosomes.

Citing Articles

Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect.

Federico C, Brancato D, Bruno F, Galvano D, Caruso M, Saccone S Genes (Basel). 2024; 15(6).

PMID: 38927657 PMC: 11202415. DOI: 10.3390/genes15060722.

Homozygosity for Robertsonian Translocation (14q;15q) in a Newborn with a Familial History of Recurrent Abortion and Newborns Affected by Hepatosplenomegaly: A Case Report.

Sahraeean S, Jebelli A, Shahbazi Z, Piryaei F J Reprod Infertil. 2024; 24(4):301-305.

PMID: 38164430 PMC: 10757691. DOI: 10.18502/jri.v24i4.14158.

Genomic analyses of wild argali, domestic sheep, and their hybrids provide insights into chromosome evolution, phenotypic variation, and germplasm innovation.

Li X, He S, Li W, Luo L, Yan Z, Mo D Genome Res. 2022; 32(9):1669-1684.

PMID: 35948368 PMC: 9528982. DOI: 10.1101/gr.276769.122.

Only the Rye Derived Part of the 1BL/1RS Hybrid Centromere Incorporates CENH3 of Wheat.

Karimi-Ashtiyani R, Schubert V, Houben A Front Plant Sci. 2021; 12:802222.

PMID: 34966406 PMC: 8710534. DOI: 10.3389/fpls.2021.802222.

Does divergence from normal patterns of integration increase as chromosomal fusions increase in number? A test on a house mouse hybrid zone.

Fruciano C, Colangelo P, Castiglia R, Franchini P Curr Zool. 2020; 66(5):527-538.

PMID: 33293931 PMC: 7705516. DOI: 10.1093/cz/zoaa035.

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