Single-Cell Sequencing Reveals the Relationship between Phenotypes and Genotypes of Klinefelter Syndrome
Klinefelter syndrome (KS) is one of the most common congenital disorders of male infertility. Given its high heterogeneity in clinical and genetic presentation, the relationship between transcriptome, clinical phenotype, and associated co-morbidities seen in KS has not been fully clarified. Here, we...
Saved in:
Published in | Cytogenetic and genome research Vol. 159; no. 2; p. 55 |
---|---|
Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
01.12.2019
|
Subjects | |
Online Access | Get more information |
Cover
Loading…
Abstract | Klinefelter syndrome (KS) is one of the most common congenital disorders of male infertility. Given its high heterogeneity in clinical and genetic presentation, the relationship between transcriptome, clinical phenotype, and associated co-morbidities seen in KS has not been fully clarified. Here, we report a 47,XXY Chinese male with infertility and analyzed the differences in gene expression patterns of peripheral blood mononuclear cells (PBMCs) with regard to a Chinese male and a female control with normal karyotype by single-cell sequencing. A total of 24,439 cells were analyzed and divided into 5 immune cell types (including B cells, T cells, macrophage cells, dendritic cells, and natural killer cells) according to marker genes. Using unsupervised dimensionality reduction and clustering algorithms, we identified molecularly distinct subpopulations of cells between the KS patient and both controls. Gene ontology enrichment analyses yielded terms associated with well-known comorbidities seen in KS as well as an affected immune system and type I diabetes mellitus. Based on our data, we identified several candidate genes which may be implicated in regulating the phenotype of KS. Overall, this analysis provides a comprehensive map of the cell types of PBMCs in a KS patient at the single-cell level, which will contribute to the prevention of comorbidity and improvement of the life quality of KS patients. |
---|---|
AbstractList | Klinefelter syndrome (KS) is one of the most common congenital disorders of male infertility. Given its high heterogeneity in clinical and genetic presentation, the relationship between transcriptome, clinical phenotype, and associated co-morbidities seen in KS has not been fully clarified. Here, we report a 47,XXY Chinese male with infertility and analyzed the differences in gene expression patterns of peripheral blood mononuclear cells (PBMCs) with regard to a Chinese male and a female control with normal karyotype by single-cell sequencing. A total of 24,439 cells were analyzed and divided into 5 immune cell types (including B cells, T cells, macrophage cells, dendritic cells, and natural killer cells) according to marker genes. Using unsupervised dimensionality reduction and clustering algorithms, we identified molecularly distinct subpopulations of cells between the KS patient and both controls. Gene ontology enrichment analyses yielded terms associated with well-known comorbidities seen in KS as well as an affected immune system and type I diabetes mellitus. Based on our data, we identified several candidate genes which may be implicated in regulating the phenotype of KS. Overall, this analysis provides a comprehensive map of the cell types of PBMCs in a KS patient at the single-cell level, which will contribute to the prevention of comorbidity and improvement of the life quality of KS patients. |
Author | Xu, Yong Zhou, Jun Guo, Hui Ou, Minglin Tang, Donge Lin, Linhua Xie, Jiansheng Liu, Xiaohui Zheng, Fengping Dai, Yong |
Author_xml | – sequence: 1 givenname: Xiaohui surname: Liu fullname: Liu, Xiaohui – sequence: 2 givenname: Donge surname: Tang fullname: Tang, Donge – sequence: 3 givenname: Fengping surname: Zheng fullname: Zheng, Fengping – sequence: 4 givenname: Yong surname: Xu fullname: Xu, Yong – sequence: 5 givenname: Hui surname: Guo fullname: Guo, Hui – sequence: 6 givenname: Jun surname: Zhou fullname: Zhou, Jun – sequence: 7 givenname: Linhua surname: Lin fullname: Lin, Linhua – sequence: 8 givenname: Jiansheng surname: Xie fullname: Xie, Jiansheng – sequence: 9 givenname: Minglin surname: Ou fullname: Ou, Minglin – sequence: 10 givenname: Yong surname: Dai fullname: Dai, Yong |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31630146$$D View this record in MEDLINE/PubMed |
BookMark | eNo9j8tKxDAYhYMozkUXvoDkBap_rk2WMugoDihWwd2Qtn9sJZPWtqP07S14WZ1zvsUHZ0EOYxORkDMGF4wpewkACkQq0gMyZ5LLxCj7OiOLvn8HYEYqfUxmgmkBTOo5qbI6vgVMVhgCzfBjj7GYCH3CT3Shp0OFUw9uqJvYV3VLcxy-ECN9rDA2w9hiT10s6fp_NZ7ehzqixzBgR7Mxll2zwxNy5Cchnv7mkrzcXD-vbpPNw_pudbVJCgF6SIzJS-HB-1JoxhxowzWX3Beal5Yrw0UO0qYonLW5UmB9AYVgqUFjUycdX5LzH2-7z3dYbtuu3rlu3P5d5t9zvlf4 |
CitedBy_id | crossref_primary_10_3390_ijms21186614 crossref_primary_10_1515_medgen_2022_2156 crossref_primary_10_1007_s10528_024_10689_6 crossref_primary_10_1155_2021_9988347 crossref_primary_10_23736_S2724_6507_20_03357_X crossref_primary_10_1002_ajmg_c_31807 |
ContentType | Journal Article |
Copyright | 2019 S. Karger AG, Basel. |
Copyright_xml | – notice: 2019 S. Karger AG, Basel. |
DBID | CGR CUY CVF ECM EIF NPM |
DOI | 10.1159/000503737 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) |
DatabaseTitleList | MEDLINE |
Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
DeliveryMethod | no_fulltext_linktorsrc |
Discipline | Biology |
EISSN | 1424-859X |
ExternalDocumentID | 31630146 |
Genre | Journal Article |
GroupedDBID | --- -~X .GJ 0R~ 0~5 0~B 29F 30W 326 34G 36B 39C 3O- 3O. 3V. 4.4 53G 5GY 5RE 7X7 88A 88E 88I 8AF 8AO 8FE 8FH 8FI 8FJ 8UI AAYIC ABJNI ABPAZ ABUWG ACGFO ACGFS ACGOD ACPRK ACPSR ADBBV AENEX AEYAO AFFNX AFJJK AFKRA AHMBA ALDHI ALIPV ALMA_UNASSIGNED_HOLDINGS AZPMC AZQEC BBNVY BENPR BES BHPHI BPHCQ BVXVI CAG CCPQU CGR COF CS3 CUY CVF CYUIP DU5 DWQXO E0A EBS ECM EIF EJD EMB EMOBN F5P FB. FYUFA GNUQQ HCIFZ HMCUK HZ~ IH2 IY7 KUZGX L7B LK8 M0L M1P M2P M7P NPM O1H O9- PQQKQ PROAC PSQYO RIG RKO RXVBD S0X SV3 UJ6 UKHRP ZGI |
ID | FETCH-LOGICAL-c306t-88bd3f0ffd3611a06826242fc62d925823b0497e3a99b5509fc0c3178e897a4a2 |
IngestDate | Sun Jul 28 07:16:02 EDT 2024 |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 2 |
Keywords | Klinefelter syndrome Single-cell sequencing Male infertility |
Language | English |
License | 2019 S. Karger AG, Basel. |
LinkModel | OpenURL |
MergedId | FETCHMERGED-LOGICAL-c306t-88bd3f0ffd3611a06826242fc62d925823b0497e3a99b5509fc0c3178e897a4a2 |
PMID | 31630146 |
ParticipantIDs | pubmed_primary_31630146 |
PublicationCentury | 2000 |
PublicationDate | 2019-12-01 |
PublicationDateYYYYMMDD | 2019-12-01 |
PublicationDate_xml | – month: 12 year: 2019 text: 2019-12-01 day: 01 |
PublicationDecade | 2010 |
PublicationPlace | Switzerland |
PublicationPlace_xml | – name: Switzerland |
PublicationTitle | Cytogenetic and genome research |
PublicationTitleAlternate | Cytogenet Genome Res |
PublicationYear | 2019 |
SSID | ssj0018456 |
Score | 2.3658266 |
Snippet | Klinefelter syndrome (KS) is one of the most common congenital disorders of male infertility. Given its high heterogeneity in clinical and genetic... |
SourceID | pubmed |
SourceType | Index Database |
StartPage | 55 |
SubjectTerms | Female Gene Expression - genetics Gene Expression - immunology Genotype Humans Immune System - immunology Infertility, Male - genetics Infertility, Male - immunology Klinefelter Syndrome - genetics Klinefelter Syndrome - immunology Leukocytes, Mononuclear - immunology Leukocytes, Mononuclear - physiology Male Phenotype Single-Cell Analysis - methods Transcriptome - genetics Transcriptome - immunology |
Title | Single-Cell Sequencing Reveals the Relationship between Phenotypes and Genotypes of Klinefelter Syndrome |
URI | https://www.ncbi.nlm.nih.gov/pubmed/31630146 |
Volume | 159 |
hasFullText | |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3PT9swFLZaJqZeEION8WvygdsUSOMktY-IDdAmEFJbqXCp4l-00kh6aJHKlX-c59hJLAaI7RIlthxZ_j49v_fy8hmhA01iyomUAWcSAhQp04Cnkgecp10RiViE3CT0Ly7T82H8a5SMWq1Hr2ppMeeH4uHF_0r-B1VoA1zNX7L_gGz9UmiAe8AXroAwXN-FcR_2nT8qODH5t76tibbVdPfKqCIbn7IudvOLsq4mKi9M8tUKNJ_VT-A5_jZ-p1bmI_r3_ktyBst5ARNSldCrEXm9M2eveGkxU-AzXRj0RtOsmCymTX7AmpYfRX5bM-oGZlO2wtrezqqtFDpG5SuuC9fichNd5tV5KGtP4ygOaFKeltsYXKcBPvUCX2s-rWLv31Y9YbYMMglJz2rEeOjO7kp4CXiWoctnvt37TGC76mqjdo8aI3lpEj7uQxQFB9MJUsEsjuo5dNDHatyzgKR0TAbraM1FFPjY0uMTaql8A63aM0aXm2jikQQ3JMGOJBhIgn2SYEcS3JAEA864JgkuNPZIgiuSfEbD05-Dk_PAHa8RCIgT5wGlXBIdai1J2u1mYQqRJjhsWqSRZFFCI8IhfOwpkjHGIZBlWoQC3E2qKOtlcRZ9QSt5kauvCIMbKpkMJQllbDIETEUpjCFMM84Ej7bRll2i8cxqqIyrxdt5tWcXdRpK7aEPGtZE7YMHOOffSoyeAFiAXwk |
link.rule.ids | 786 |
linkProvider | National Library of Medicine |
openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Single-Cell+Sequencing+Reveals+the+Relationship+between+Phenotypes+and+Genotypes+of+Klinefelter+Syndrome&rft.jtitle=Cytogenetic+and+genome+research&rft.au=Liu%2C+Xiaohui&rft.au=Tang%2C+Donge&rft.au=Zheng%2C+Fengping&rft.au=Xu%2C+Yong&rft.date=2019-12-01&rft.eissn=1424-859X&rft.volume=159&rft.issue=2&rft.spage=55&rft_id=info:doi/10.1159%2F000503737&rft_id=info%3Apmid%2F31630146&rft_id=info%3Apmid%2F31630146&rft.externalDocID=31630146 |