Novel mutation in UMPS gene leads to false positive result of DUMPS (genetic disorder) in buffaloes: need for gene sequencing before confirming results of RFLP in new species

Sudhakar, A; Khade, A. S.; Nayee, Nilesh; Reddy, Ramesh; Maurya, Brijesh Kumar

doi:10.1007/s12041-021-01305-2

Cited by 3 publications

(2 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Homozygosity for a loss of function variant in the umps gene, p.R405x, in buffaloes and in the Holstein-Friesian breed cattle results in early embryonic death. Orotate level in the milk of this breed is four to 12 times normal ( Schwenger et al, 1993 ; Sudhakar et al, 2021 ). Others reported that cows with partial deficiency of UMPS showed orotic acidemia and aciduria during lactation ( Robinson et al, 1984 ; Shanks et al, 1984 ).…”

Section: Discussionmentioning

confidence: 91%

Hereditary orotic aciduria identified by newborn screening

et al. 2023

View full text Add to dashboard Cite

Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill.Methods: Measuring orotic acid as part of expanded newborn screening using flow injection analysis tandem mass spectrometry.Results: Since the addition of orotic acid measurement to the Israeli routine newborn screening program, 1,492,439 neonates have been screened. The screen has identified ten Muslim Arab newborns that remain asymptomatic so far, with DBS orotic acid elevated up to 10 times the upper reference limit. Urine organic acid testing confirmed the presence of orotic aciduria along with homozygous variations in the UMPS gene.Conclusion: Newborn screening measuring of orotic acid, now integrated into the routine tandem mass spectrometry panel, is capable of identifying neonates with hereditary orotic aciduria.

show abstract

Section: Discussionmentioning

confidence: 91%

Hereditary orotic aciduria identified by newborn screening

et al. 2023

View full text Add to dashboard Cite

show abstract

“…In a similar work, Thakor et al (2021) could differentiate phenotypically distinct breeds like Surti, Pandharpuri, and Jaffarabadi using SNPs in Axiom™ Buffalo Genotyping Array (90 K) but not others like Banni, Mehsana, Murrah and Niliravi. In a related development, Sudhakar et al (2021) studied false positive results of Deficiency of Uridine Monophosphate Synthase (DUMPS) in buffaloes which were tested using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) tools developed for cattle and reported that using SNP detection genomic tools developed for a species requires genome sequencing for validation before using in a new species/population. These results indicates the need for identifying SNPs that are polymorphic in buffaloes and developing a buffalo specific genotyping SNP chip for applications like genomic breeding value estimation, breed purity analysis etc.…”

mentioning

confidence: 99%

Performance of Illumina® BovineHD BeadChip in genotyping Indian riverine buffalo breeds

SHAH¹,

Sudhakar²,

DONTHULA³

et al. 2022

Indian J of Anim Sci

Self Cite

View full text Add to dashboard Cite

The current study tested the suitability of Illumina® BovineHD BeadChip in genotyping three riverine breeds of buffalo viz. Jaffarabadi, Murrah and Mehsana. Of the 777962 SNPs, 670955 SNPs were called in all animals and only 13150 SNPs were found to be polymorphic at a call rate of 90%, and had Minor Allele Frequency (MAF) greater than 0.05. The average Minor Allele Frequency (MAF) of polymorphic SNPs was 0.23 and average expected heterozygosity (HE) of 0.321. Principal Component Analysis (PCA) revealed 2 different clusters where Murrah and Mehsana breeds clustered together, while Jaffarabadi breed formed a distinct cluster. Result obtained in this study indicated that the SNPs available in Illumina BovineHD BeadChip may not be good enough for studying population structure and genetic analyses in Indian buffalo breeds. Hence it might be necessary to develop a custom SNP marker panel for Indian riverine buffaloes.

show abstract