Structural variation around prolactin gene linked to quantitative traits in an elite Holstein sire family

1990 ◽  
Vol 79 (5) ◽  
pp. 577-582 ◽  
Author(s):  
C. M. Cowan ◽  
M. R. Dentine ◽  
R. L. Ax ◽  
L. A. Schuler
Keyword(s):  
Quantitative Traits ◽  
Structural Variation ◽  
Sire Family ◽  
Prolactin Gene

scholarly journals Association of Structural Variation with Cardiometabolic Traits in Finns

2020 ◽  
Author(s):  
Lei Chen ◽  
Haley J Abel ◽  
Indraniel Das ◽  
David E. Larson ◽  
Liron Ganel ◽  
...  
Keyword(s):  
Quantitative Traits ◽  
Structural Variation ◽  
Disease Risk ◽  
Low Frequency ◽  
Copy Number Variant ◽  
Underlying Disease ◽  
Albumin Level ◽  
Single Nucleotide Variants ◽  
Finnish Population ◽  
Cardiometabolic Traits

The contribution of genome structural variation (SV) to quantitative traits associated with cardiometabolic diseases remains largely unknown. Here, we present the results of a study examining genetic association between SVs and cardiometabolic traits in the Finnish population. We used sensitive methods to identify and genotype 129,166 high-confidence SVs from deep whole genome sequencing (WGS) data of 4,848 individuals. We tested the 64,572 common and low frequency SVs for association with 116 quantitative traits, and tested candidate associations using exome sequencing and array genotype data from an additional 15,205 individuals. We discovered 31 genome-wide significant associations at 15 loci, including two novel loci at which SVs have strong phenotypic effects: (1) a deletion of the ALB gene promoter that is greatly enriched in the Finnish population and causes decreased serum albumin level in carriers (p=1.47x10-54), and is also associated with increased levels of total cholesterol (p=1.22x10-28) and 14 additional cholesterol-related traits, and (2) a multiallelic copy number variant (CNV) at PDPR that is strongly associated with pyruvate (p=4.81x10-21) and alanine (p=6.14x10-12) levels and resides within a structurally complex genomic region that has accumulated many rearrangements over evolutionary time. We also confirmed six previously reported associations, including five led by stronger signals in single nucleotide variants (SNVs), and one linking recurrent HP gene deletion and cholesterol levels (p=6.24x10-10), which was also found to be strongly associated with increased glycoprotein level (p=3.53x10-35). Our study confirms that integrating SVs in trait-mapping studies will expand our knowledge of genetic factors underlying disease risk.

Characterization of 24bp Insertion Polymorphism of Prolactin Gene and its Association with Quantitative Traits in Tellicherry Native Chicken Breed

2021 ◽  
Author(s):  
Azhaguraja Manoharan ◽  
S. Sankaralingam ◽  
P. Anitha ◽  
Binoj Chacko ◽  
T.V. Aravindakshan
Keyword(s):  
Quantitative Traits ◽  
Pcr Amplification ◽  
Phenotypic Selection ◽  
Insertion Polymorphism ◽  
Production Traits ◽  
Chicken Breed ◽  
Poultry Breeding ◽  
Native Chicken ◽  
Prolactin Gene

Background: Over many centuries, the conventional methods of poultry breeding is based on the phenotypic selection of the birds with superior trait in a particular population. Prolactin is a physiological candidate gene that has significant effects on production traits in poultry. The objective of this study was to investigate 24bp insertion (I) polymorphism of prolactin gene and its association with quantitative traits in Tellicherry native chicken. Methods: A total of 200 blood samples were collected from the randomly selected birds of All India Co-ordinated Research Project (AICRP) on Poultry Breeding, Mannuthy. The isolated DNA samples were subjected to polymerase chain reaction (PCR) by using specific set of primers to amplify the 24bp insertion polymorphism. PCR amplicons were sequenced to study the polymorphism at nucleotide level. Result: PCR amplification revealed the presence of a specific DNA fragment with 130/154bp contained 24bp insertion polymorphism. Based on the polymorphic patterns birds were designated with three genotypes as II, ID and DD. The frequency of I (0.6975) allele was found higher than D (0.3025) allele. Our experimental results revealed that 24bp insertion polymorphism of prolactin did not have a significant association with production traits viz, age at sexual maturity, egg weight and egg number in Tellicherry native chicken.

Mapping of the prolactin gene to chicken chromosome 2

1999 ◽  
Vol 30 (6) ◽  
pp. 462-478 ◽  
Author(s):  
Y-W Miao ◽  
D W Burt ◽  
I R Paton ◽  
P J Sharp ◽  
I C Dunn
Keyword(s):  
Chromosome 2 ◽  
Chicken Chromosome ◽  
Prolactin Gene

Structural variation in the songs of Atlantic walruses breeding in the Canadian High Arctic

2003 ◽  
Vol 29 (2) ◽  
pp. 297-318 ◽  
Author(s):  
Becky Sjare ◽  
Ian Stirling ◽  
Cheryl Spencer
Keyword(s):  
Structural Variation ◽  
High Arctic ◽  
Canadian High Arctic

CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS)

2008 ◽  
Vol 31 (4) ◽  
pp. 19
Author(s):  
I Pasic ◽  
A Shlien ◽  
A Novokmet ◽  
C Zhang ◽  
U Tabori ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Large Scale ◽  
Structural Variation ◽  
Age Of Onset ◽  
Cancer Susceptibility ◽  
Small Sample Size ◽  
Snp Array ◽  
Tumour Suppressor Gene ◽  
Small Sample ◽  
International Hapmap Project

Introduction: OS, a common Li-Fraumeni syndrome (LFS)-associated neoplasm, is a common bone malignancy of children and adolescents. Sporadic OS is also characterized by young age of onset and high genomic instability, suggesting a genetic contribution to disease. This study examined the contribution of novel DNA structural variation elements, CNVs, to OS susceptibility. Given our finding of excessive constitutional DNA CNV in LFS patients, which often coincide with cancer-related genes, we hypothesized that constitutional CNV may also provide clues about the aetiology of LFS-related sporadic neoplasms like OS. Methods: CNV in blood DNA of 26 patients with sporadic OS was compared to that of 263 normal control samples from the International HapMap project, as well as 62 local controls. Analysis was performed on DNA hybridized to Affymetrix genome-wide human SNP array 6.0 by Partek Genomic Suite. Results: There was no detectable difference in average number of CNVs, CNV length, and total structural variation (product of average CNV number and length) between individuals with OS and controls. While this data is preliminary (small sample size), it argues against the presence of constitutional genomic instability in individuals with sporadic OS. Conclusion: We found that the majority of tumours from patients with sporadic OS show CN loss at chr3q13.31, raising the possibility that chr3q13.31 may represent a “driver” region in OS aetiology. In at least one OS tumour, which displays CN loss at chr3q13.31, we demonstrate decreased expression of a known tumour suppressor gene located at chr3q13.31. We are investigating the role ofchr3q13.31 in development of OS.

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