PMID- 36352091
OWN - NLM
STAT- MEDLINE
DCOM- 20221111
LR  - 20230105
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 12
IP  - 1
DP  - 2022 Nov 9
TI  - Analysis of amplification and association polymorphisms in the bovine 
      beta-defensin 129 (BBD129) gene revealed its function in bull fertility.
PG  - 19042
LID - 10.1038/s41598-022-23654-3 [doi]
LID - 19042
AB  - beta-defensins are adsorbable on the sperm surface in the male reproductive tract 
      (MRT) and enhance sperm functional characteristics. The beta-defensin 129 
      (DEFB129) antimicrobial peptide is involved in sperm maturation, motility, and 
      fertilization. However, its role in bovine fertility has not been well 
      investigated. This study examines the relationship between the bovine BBD129 gene 
      and Bos indicus x Bos taurus bull fertility. The complete coding sequence 
      of BBD129 mRNA was identified by RNA Ligase Mediated-Rapid Amplification of cDNA 
      End (RLM-RACE) and Sanger sequencing methodologies. It consisted of 582 
      nucleotides (nts) including 5' untranslated region (UTR) (46nts) and 3'UTR 
      (23nts). It conserves all beta-defensin-like features. The expression level of 
      BBD129 was checked by RT-qPCR and maximal expression was detected in the 
      corpus-epididymis region compared to other parts of MRT. Polymorphism in BBD129 
      was also confirmed by Sanger sequencing of 254 clones from 5 high fertile (HF) 
      and 6 low fertile (LF) bulls at two positions, 169 T > G and 329A > G, which 
      change the S57A and N110S in the protein sequence respectively. These two 
      mutations give rise to four types of BBD129 haplotypes. The non-mutated TA-BBD129 
      (169 T/329A) haplotype was substantially more prevalent among high-fertile bulls 
      (P < 0.005), while the double-site mutated GG-BBD129 (169 T > G/329A > G) 
      haplotype was significantly more prevalent among low-fertile bulls (P < 0.005). 
      The in silico analysis confirmed that the polymorphism in BBD129 results in 
      changes in mRNA secondary structure, protein conformations, protein stability, 
      extracellular-surface availability, post-translational modifications 
      (O-glycosylation and phosphorylation), and affects antibacterial and 
      immunomodulatory capabilities. In conclusion, the mRNA expression of BBD129 in 
      the MRT indicates its region-specific dynamics in sperm 
      maturation. BBD129 polymorphisms were identified as the deciding elements 
      accountable for the changed proteins with impaired functionality, contributing to 
      cross-bred bulls' poor fertility.
CI  - (c) 2022. The Author(s).
FAU - Solanki, Subhash
AU  - Solanki S
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - Kashyap, Poonam
AU  - Kashyap P
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - Ali, Syed Azmal
AU  - Ali SA
AD  - Cell Biology and Proteomics Lab, Animal Biotechnology Centre, National Dairy 
      Research Institute, Karnal, 132001, Haryana, India.
FAU - Kumar, Vijay
AU  - Kumar V
AD  - NMR-2 Lab, National Institute of Immunology, New Delhi, 110076, India.
FAU - Vats, Ashutosh
AU  - Vats A
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - Pukhrambam, Martina
AU  - Pukhrambam M
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - Kumar, Rakesh
AU  - Kumar R
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - De, Sachinandan
AU  - De S
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India.
FAU - Datta, Tirtha Kumar
AU  - Datta TK
AD  - Animal Genomics Lab, National Dairy Research Institute, Karnal, Haryana, 132001, 
      India. tirthadatta@gmail.com.
AD  - ICAR- Central Institute for Research on Buffaloes, Hisar, 125001, India. 
      tirthadatta@gmail.com.
LA  - eng
GR  - INV-008501-OPP1154401/Bill and Melinda Gates Foundation/
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20221109
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (beta-Defensins)
RN  - 0 (3' Untranslated Regions)
SB  - IM
MH  - Cattle
MH  - Male
MH  - Animals
MH  - *beta-Defensins/genetics/metabolism
MH  - Semen/metabolism
MH  - Fertility/genetics
MH  - Spermatozoa/metabolism
MH  - 3' Untranslated Regions
PMC - PMC9646896
COIS- The authors declare no competing interests.
EDAT- 2022/11/10 06:00
MHDA- 2022/11/15 06:00
PMCR- 2022/11/09
CRDT- 2022/11/09 23:41
PHST- 2022/06/02 00:00 [received]
PHST- 2022/11/03 00:00 [accepted]
PHST- 2022/11/09 23:41 [entrez]
PHST- 2022/11/10 06:00 [pubmed]
PHST- 2022/11/15 06:00 [medline]
PHST- 2022/11/09 00:00 [pmc-release]
AID - 10.1038/s41598-022-23654-3 [pii]
AID - 23654 [pii]
AID - 10.1038/s41598-022-23654-3 [doi]
PST - epublish
SO  - Sci Rep. 2022 Nov 9;12(1):19042. doi: 10.1038/s41598-022-23654-3.